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Eur J Pediatr Surg 2021; 31(06): 472-481
DOI: 10.1055/s-0041-1740337
Review Article

Genetic Diagnostic Strategies and Counseling for Families Affected by Congenital Diaphragmatic Hernia

Charlotte Bendixen 
1   Department of General, Visceral, Vascular and Thoracic Surgery, Unit of Pediatric Surgery, Universitätsklinikum Bonn, Bonn, Germany
,
Erwin Brosens
2   Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands
,
Wendy Kay Chung
3   Department of Medicine, Columbia University Irving Medical Center, New York, United States
4   Department of Pediatrics, Columbia University Irving Medical Center, New York, United States
› Institutsangaben Funding Rheinische Friedrich-Wilhelms-Universität Bonn. Bonfor grant number O-112.0062
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Abstract

Congenital diaphragmatic hernia (CDH) is a relatively common and severe birth defect with variable clinical outcome and associated malformations in up to 60% of patients. Mortality and morbidity remain high despite advances in pre-, intra-, and postnatal management. We review the current literature and give an overview about the genetics of CDH to provide guidelines for clinicians with respect to genetic diagnostics and counseling for families. Until recently, the common practice was (molecular) karyotyping or chromosome microarray if the CDH diagnosis is made prenatally with a 10% diagnostic yield. Undiagnosed patients can be reflexed to trio exome/genome sequencing with an additional diagnostic yield of 10 to 20%. Even with a genetic diagnosis, there can be a range of clinical outcomes. All families with a child with CDH with or without additional malformations should be offered genetic counseling and testing in a family-based trio approach.

Keywords

CDH - genetic counseling - genetic testing - variant - recurrence risk


Publikationsverlauf

Eingereicht: 25. Oktober 2021

Angenommen: 01. November 2021

Artikel online veröffentlicht:
15. Dezember 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 McGivern MR, Best KE, Rankin J. et al. Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study. Arch Dis Child Fetal Neonatal Ed 2015; 100 (02) F137-F144
    CrossrefPubMedGoogle Scholar
  • 2 Gupta VS, Harting MT, Lally PA. et al; Congenital Diaphragmatic Hernia Study Group. Mortality in congenital diaphragmatic hernia: a multicenter registry study of over 5000 patients over 25 years. Ann Surg 2021 (e-pub ahead of print)
    PubMedGoogle Scholar
  • 3 Pickering M, Jones JF. The diaphragm: two physiological muscles in one. J Anat 2002; 201 (04) 305-312
    CrossrefPubMedGoogle Scholar
  • 4 Kardon G, Ackerman KG, McCulley DJ. et al. Congenital diaphragmatic hernias: from genes to mechanisms to therapies. Dis Model Mech 2017; 10 (08) 955-970
    CrossrefPubMedGoogle Scholar
  • 5 Longoni M, Pober BR, High FA. Congenital Diaphragmatic Hernia Overview. In: Adam MP, Ardinger HH, Pagon RA. et al., eds. GeneReviews(®). Seattle (WA): University of Washington; Seattle Copyright © 1993–2020, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.; 1993
    Google Scholar
  • 6 Stoll C, Alembik Y, Dott B, Roth MP. Associated malformations in cases with congenital diaphragmatic hernia. Genet Couns 2008; 19 (03) 331-339
    PubMedGoogle Scholar
  • 7 Pober BR. Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH. Am J Med Genet C Semin Med Genet 2007; 145C (02) 158-171
    CrossrefPubMedGoogle Scholar
  • 8 Zaiss I, Kehl S, Link K. et al. Associated malformations in congenital diaphragmatic hernia. Am J Perinatol 2011; 28 (03) 211-218
    Artikel in Thieme ConnectPubMedGoogle Scholar
  • 9 Chiu PP, Ijsselstijn H. Morbidity and long-term follow-up in CDH patients. Eur J Pediatr Surg 2012; 22 (05) 384-392
    Artikel in Thieme ConnectPubMedGoogle Scholar
  • 10 Amoils M, Crisham Janik M, Lustig LR. Patterns and predictors of sensorineural hearing loss in children with congenital diaphragmatic hernia. JAMA Otolaryngol Head Neck Surg 2015; 141 (10) 923-926
    PubMedGoogle Scholar
  • 11 Masumoto K, Nagata K, Uesugi T, Yamada T, Taguchi T. Risk factors for sensorineural hearing loss in survivors with severe congenital diaphragmatic hernia. Eur J Pediatr 2007; 166 (06) 607-612
    CrossrefPubMedGoogle Scholar
  • 12 Merrell AJ, Ellis BJ, Fox ZD, Lawson JA, Weiss JA, Kardon G. Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias. Nat Genet 2015; 47 (05) 496-504
    CrossrefPubMedGoogle Scholar
  • 13 Cleal L, McHaffie SL, Lee M, Hastie N, Martínez-Estrada OM, Chau YY. Resolving the heterogeneity of diaphragmatic mesenchyme: a novel mouse model of congenital diaphragmatic hernia. Dis Model Mech 2021; 14 (01) 14
    CrossrefPubMedGoogle Scholar
  • 14 Carmona R, Cañete A, Cano E, Ariza L, Rojas A, Muñoz-Chápuli R. Conditional deletion of WT1 in the septum transversum mesenchyme causes congenital diaphragmatic hernia in mice. eLife 2016; 5: 5
    CrossrefPubMedGoogle Scholar
  • 15 Sefton EM, Gallardo M, Kardon G. Developmental origin and morphogenesis of the diaphragm, an essential mammalian muscle. Dev Biol 2018; 440 (02) 64-73
    CrossrefPubMedGoogle Scholar
  • 16 Sefton EM, Kardon G. Connecting muscle development, birth defects, and evolution: an essential role for muscle connective tissue. Curr Top Dev Biol 2019; 132: 137-176
    CrossrefPubMedGoogle Scholar
  • 17 Paris ND, Coles GL, Ackerman KG. Wt1 and β-catenin cooperatively regulate diaphragm development in the mouse. Dev Biol 2015; 407 (01) 40-56
    CrossrefPubMedGoogle Scholar
  • 18 Coles GL, Ackerman KG. Kif7 is required for the patterning and differentiation of the diaphragm in a model of syndromic congenital diaphragmatic hernia. Proc Natl Acad Sci U S A 2013; 110 (21) E1898-E1905
    CrossrefPubMedGoogle Scholar
  • 19 Clugston RD, Zhang W, Greer JJ. Early development of the primordial mammalian diaphragm and cellular mechanisms of nitrofen-induced congenital diaphragmatic hernia. Birth Defects Res A Clin Mol Teratol 2010; 88 (01) 15-24
    PubMedGoogle Scholar
  • 20 Noda K, Kitagawa K, Miki T. et al. A matricellular protein fibulin-4 is essential for the activation of lysyl oxidase. Sci Adv 2020; 6 (48) eabc1404
    CrossrefPubMedGoogle Scholar
  • 21 Nakamura H, Doi T, Puri P, Friedmacher F. Transgenic animal models of congenital diaphragmatic hernia: a comprehensive overview of candidate genes and signaling pathways. Pediatr Surg Int 2020; 36 (09) 991-997
    CrossrefPubMedGoogle Scholar
  • 22 Beurskens N, Klaassens M, Rottier R, de Klein A, Tibboel D. Linking animal models to human congenital diaphragmatic hernia. Birth Defects Res A Clin Mol Teratol 2007; 79 (08) 565-572
    CrossrefPubMedGoogle Scholar
  • 23 Hornstra IK, Birge S, Starcher B, Bailey AJ, Mecham RP, Shapiro SD. Lysyl oxidase is required for vascular and diaphragmatic development in mice. J Biol Chem 2003; 278 (16) 14387-14393
    CrossrefPubMedGoogle Scholar
  • 24 Garne E, Haeusler M, Barisic I, Gjergja R, Stoll C, Clementi M. Euroscan Study Group. Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions. Ultrasound Obstet Gynecol 2002; 19 (04) 329-333
    CrossrefPubMedGoogle Scholar
  • 25 Cordier AG, Jani JC, Cannie MM. et al. Stomach position in prediction of survival in left-sided congenital diaphragmatic hernia with or without fetoscopic endoluminal tracheal occlusion. Ultrasound Obstet Gynecol 2015; 46 (02) 155-161
    CrossrefPubMedGoogle Scholar
  • 26 Basta AM, Lusk LA, Keller RL, Filly RA. Fetal stomach position predicts neonatal outcomes in isolated left-sided congenital diaphragmatic hernia. Fetal Diagn Ther 2016; 39 (04) 248-255
    CrossrefPubMedGoogle Scholar
  • 27 Metkus AP, Filly RA, Stringer MD, Harrison MR, Adzick NS. Sonographic predictors of survival in fetal diaphragmatic hernia. J Pediatr Surg 1996; 31 (01) 148-151 , discussion 151–152
    CrossrefPubMedGoogle Scholar
  • 28 Burgos CM, Frenckner B, Luco M, Harting MT, Lally PA, Lally KP. Congenital Diaphragmatic Hernia Study Group. Prenatally versus postnatally diagnosed congenital diaphragmatic hernia - Side, stage, and outcome. J Pediatr Surg 2019; 54 (04) 651-655
    CrossrefPubMedGoogle Scholar
  • 29 Kilian AK, Büsing KA, Schuetz EM, Schaible T, Neff KW. Fetal MR lung volumetry in congenital diaphragmatic hernia (CDH): prediction of clinical outcome and the need for extracorporeal membrane oxygenation (ECMO). Klin Padiatr 2009; 221 (05) 295-301
    Artikel in Thieme ConnectPubMedGoogle Scholar
  • 30 Deprest JA, Flemmer AW, Gratacos E, Nicolaides K. Antenatal prediction of lung volume and in-utero treatment by fetal endoscopic tracheal occlusion in severe isolated congenital diaphragmatic hernia. Semin Fetal Neonatal Med 2009; 14 (01) 8-13
    CrossrefPubMedGoogle Scholar
  • 31 Snoek KG, Peters NCJ, van Rosmalen J. et al. The validity of the observed-to-expected lung-to-head ratio in congenital diaphragmatic hernia in an era of standardized neonatal treatment; a multicenter study. Prenat Diagn 2017; 37 (07) 658-665
    CrossrefPubMedGoogle Scholar
  • 32 Qiao L, Wynn J, Yu L. et al. Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes. Genet Med 2020; 22 (12) 2020-2028
    CrossrefPubMedGoogle Scholar
  • 33 Coughlin MA, Gupta VS, Ebanks AH, Harting MT, Lally KP. Congenital Diaphragmatic Hernia Study Group. Incidence and outcomes of patients with congenital diaphragmatic hernia and pulmonary sequestration. J Pediatr Surg 2021; 56 (06) 1126-1129
    CrossrefPubMedGoogle Scholar
  • 34 Coughlin MA, Werner NL, Gajarski R. et al. Prenatally diagnosed severe CDH: mortality and morbidity remain high. J Pediatr Surg 2016; 51 (07) 1091-1095
    CrossrefPubMedGoogle Scholar
  • 35 Jancelewicz T, Brindle ME. Prediction tools in congenital diaphragmatic hernia. Semin Perinatol 2020; 44 (01) 151165
    CrossrefPubMedGoogle Scholar
  • 36 Ferguson DM, Gupta VS, Lally PA. et al; Congenital Diaphragmatic Hernia Study Group. Early, postnatal pulmonary hypertension severity predicts inpatient outcomes in congenital diaphragmatic hernia. Neonatology 2021; 118 (02) 147-154
    CrossrefPubMedGoogle Scholar
  • 37 Brindle ME, Cook EF, Tibboel D, Lally PA, Lally KP. Congenital Diaphragmatic Hernia Study Group. A clinical prediction rule for the severity of congenital diaphragmatic hernias in newborns. Pediatrics 2014; 134 (02) e413-e419
    CrossrefPubMedGoogle Scholar
  • 38 Cochius-den Otter SCM, Erdem Ö, van Rosmalen J. et al. Validation of a prediction rule for mortality in congenital diaphragmatic hernia. Pediatrics 2020; 145 (04) 145
    CrossrefPubMedGoogle Scholar
  • 39 Yu L, Wynn J, Ma L. et al. De novo copy number variants are associated with congenital diaphragmatic hernia. J Med Genet 2012; 49 (10) 650-659
    CrossrefPubMedGoogle Scholar
  • 40 Russo FM, Debeer A, De Coppi P. et al. What should we tell parents? Congenital diaphragmatic hernia. Prenat Diagn 2020; DOI: 10.1002/pd.5880.
    CrossrefPubMedGoogle Scholar
  • 41 Yu L, Sawle AD, Wynn J. et al. Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia. Hum Mol Genet 2015; 24 (16) 4764-4773
    CrossrefPubMedGoogle Scholar
  • 42 Longoni M, High FA, Russell MK. et al. Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics. Proc Natl Acad Sci U S A 2014; 111 (34) 12450-12455
    CrossrefPubMedGoogle Scholar
  • 43 Bendixen C, Reutter H. The role of de novo variants in patients with congenital diaphragmatic hernia. Genes (Basel) 2021; 12 (09) 1405
    CrossrefPubMedGoogle Scholar
  • 44 Pober BR, Lin A, Russell M. et al. Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program. Am J Med Genet A 2005; 138A (02) 81-88
    CrossrefPubMedGoogle Scholar
  • 45 Wang W, Pan W, Chen J, Xie W, Liu M, Wang J. Outcomes of congenital diaphragmatic hernia in one of the twins. Am J Perinatol 2019; 36 (12) 1304-1309
    Artikel in Thieme ConnectPubMedGoogle Scholar
  • 46 Sahin S, Kutman KH, Bozkurt O. et al. A trisomy 13 case presenting with congenital diaphragmatic hernia and microphthalmiA. Genet Couns 2015; 26 (02) 263-265
    PubMedGoogle Scholar
  • 47 Jain A, Kumar P, Jindal A. et al. Congenital diaphragmatic hernia in a case of patau syndrome: a rare association. J Neonat Surg 2015; 4: 20
    CrossrefPubMedGoogle Scholar
  • 48 Tonks A, Wyldes M, Somerset DA. et al. Congenital malformations of the diaphragm: findings of the West Midlands Congenital Anomaly Register 1995 to 2000. Prenat Diagn 2004; 24 (08) 596-604
    CrossrefPubMedGoogle Scholar
  • 49 Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA. Genetic factors in congenital diaphragmatic hernia. Am J Hum Genet 2007; 80 (05) 825-845
    CrossrefPubMedGoogle Scholar
  • 50 Zhu Q, High FA, Zhang C. et al. Systematic analysis of copy number variation associated with congenital diaphragmatic hernia. Proc Natl Acad Sci U S A 2018; 115 (20) 5247-5252
    CrossrefPubMedGoogle Scholar
  • 51 Scott DA, Klaassens M, Holder AM. et al. Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Hum Mol Genet 2007; 16 (04) 424-430
    CrossrefPubMedGoogle Scholar
  • 52 Wat MJ, Veenma D, Hogue J. et al. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet 2011; 48 (05) 299-307
    CrossrefPubMedGoogle Scholar
  • 53 Yu L, Hernan RR, Wynn J, Chung WK. The influence of genetics in congenital diaphragmatic hernia. Semin Perinatol 2020; 44 (01) 151169
    CrossrefPubMedGoogle Scholar
  • 54 Matsunami N, Shanmugam H, Baird L. et al. Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia. Birth Defects Res 2018; 110 (07) 610-617
    CrossrefPubMedGoogle Scholar
  • 55 Bogenschutz EL, Fox ZD, Farrell A. et al. Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias. HGG Adv 2020; 1 (01) 100008
    PubMedGoogle Scholar
  • 56 Qi H, Yu L, Zhou X. et al. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. PLoS Genet 2018; 14 (12) e1007822
    CrossrefPubMedGoogle Scholar
  • 57 Qiao L, Xu L, Yu L. et al. Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. Am J Hum Genet 2021; 108 (10) 1964-1980
    CrossrefPubMedGoogle Scholar
  • 58 Scott TM, Campbell IM, Hernandez-Garcia A. et al. Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. J Med Genet 2021:jmedgenet-2020-107317
    PubMedGoogle Scholar
  • 59 Hosokawa S, Takahashi N, Kitajima H, Nakayama M, Kosaki K, Okamoto N. Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation. Congenit Anom (Kyoto) 2010; 50 (02) 129-132
    CrossrefPubMedGoogle Scholar
  • 60 Devriendt K, Deloof E, Moerman P. et al. Diaphragmatic hernia in Denys-Drash syndrome. Am J Med Genet 1995; 57 (01) 97-101
    CrossrefPubMedGoogle Scholar
  • 61 Antonius T, van Bon B, Eggink A, van der Burgt I, Noordam K, van Heijst A. Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation. Am J Med Genet A 2008; 146A (04) 496-499
    CrossrefPubMedGoogle Scholar
  • 62 Suri M, Kelehan P, O'neill D. et al. WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. Am J Med Genet A 2007; 143A (19) 2312-2320
    CrossrefPubMedGoogle Scholar
  • 63 Denamur E, Bocquet N, Baudouin V. et al. WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis. Kidney Int 2000; 57 (05) 1868-1872
    CrossrefPubMedGoogle Scholar
  • 64 Schwab ME, Dong S, Lianoglou BR. et al. Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants. Am J Surg 2021; S0002-9610 (21)00396-2
    PubMedGoogle Scholar
  • 65 Jacobs AM, Toudjarska I, Racine A, Tsipouras P, Kilpatrick MW, Shanske A. A recurring FBN1 gene mutation in neonatal Marfan syndrome. Arch Pediatr Adolesc Med 2002; 156 (11) 1081-1085
    CrossrefPubMedGoogle Scholar
  • 66 Revencu N, Quenum G, Detaille T, Verellen G, De Paepe A, Verellen-Dumoulin C. Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature. Eur J Pediatr 2004; 163 (01) 33-37
    CrossrefPubMedGoogle Scholar
  • 67 Stheneur C, Faivre L, Collod-Béroud G. et al. Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. Pediatr Res 2011; 69 (03) 265-270
    CrossrefPubMedGoogle Scholar
  • 68 Beck TF, Campeau PM, Jhangiani SN. et al. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A 2015; 167A (04) 831-836
    CrossrefPubMedGoogle Scholar
  • 69 Srour M, Chitayat D, Caron V. et al. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. Am J Hum Genet 2013; 93 (04) 765-772
    CrossrefPubMedGoogle Scholar
  • 70 Donnai D, Barrow M. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?. Am J Med Genet 1993; 47 (05) 679-682
    CrossrefPubMedGoogle Scholar
  • 71 Yano S, Baskin B, Bagheri A. et al. Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. Clin Genet 2011; 80 (05) 466-471
    CrossrefPubMedGoogle Scholar
  • 72 Hogue J, Shankar S, Perry H, Patel R, Vargervik K, Slavotinek A. A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. Am J Med Genet A 2010; 152A (10) 2574-2577
    CrossrefPubMedGoogle Scholar
  • 73 Maas SM, Lombardi MP, van Essen AJ. et al. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J Med Genet 2009; 46 (10) 716-720
    CrossrefPubMedGoogle Scholar
  • 74 Russell MK, Longoni M, Wells J. et al. Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes. Proc Natl Acad Sci U S A 2012; 109 (08) 2978-2983
    CrossrefPubMedGoogle Scholar
  • 75 Longoni M, High FA, Qi H. et al. Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. Hum Genet 2017; 136 (06) 679-691
    CrossrefPubMedGoogle Scholar
  • 76 Yu L, Wynn J, Cheung YH. et al. Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. Hum Genet 2013; 132 (03) 285-292
    CrossrefPubMedGoogle Scholar
  • 77 Longoni M, Russell MK, High FA. et al. Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. Clin Genet 2015; 87 (04) 362-367
    CrossrefPubMedGoogle Scholar
  • 78 Brady PD, Van Houdt J, Callewaert B, Deprest J, Devriendt K, Vermeesch JR. Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations. Eur J Med Genet 2014; 57 (06) 247-252
    CrossrefPubMedGoogle Scholar
  • 79 Beck TF, Veenma D, Shchelochkov OA. et al. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Hum Mol Genet 2013; 22 (05) 1026-1038
    CrossrefPubMedGoogle Scholar
  • 80 Reiss I, Schaible T, van den Hout L. et al; CDH EURO Consortium. Standardized postnatal management of infants with congenital diaphragmatic hernia in Europe: the CDH EURO Consortium consensus. Neonatology 2010; 98 (04) 354-364
    CrossrefPubMedGoogle Scholar
  • 81 Slavotinek AM, Moshrefi A, Lopez Jiminez N. et al. Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia. Clin Genet 2009; 75 (05) 429-439
    CrossrefPubMedGoogle Scholar
  • 82 Kantarci S, Ackerman KG, Russell MK. et al. Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. Am J Med Genet A 2010; 152A (10) 2493-2504
    CrossrefPubMedGoogle Scholar
  • 83 Youssoufian H, Chance P, Tuck-Muller CM, Jabs EW. Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene. Hum Genet 1988; 78 (03) 267-270
    CrossrefPubMedGoogle Scholar
  • 84 Kantarci S, Casavant D, Prada C. et al. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. Am J Med Genet A 2006; 140 (01) 17-23
    CrossrefPubMedGoogle Scholar
  • 85 Rosenfeld JA, Lacassie Y, El-Khechen D. et al. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome. Eur J Med Genet 2011; 54 (01) 42-49
    CrossrefPubMedGoogle Scholar
  • 86 Shaffer LG, Theisen A, Bejjani BA. et al. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med 2007; 9 (09) 607-616
    CrossrefPubMedGoogle Scholar
  • 87 Slavotinek AM, Moshrefi A, Davis R. et al. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. Eur J Hum Genet 2006; 14 (09) 999-1008
    CrossrefPubMedGoogle Scholar
  • 88 Zeng S, Patil SR, Yankowitz J. Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: a postzygotic error. Am J Med Genet A 2003; 120A (04) 464-469
    CrossrefPubMedGoogle Scholar
  • 89 Ahmed AA, Gilbert-Barness E. A Fryns syndrome-like phenotype with mosaic t(1;22)(q12;p12) chromosomal translocation. Clin Dysmorphol 2004; 13 (02) 111-112
    CrossrefPubMedGoogle Scholar
  • 90 Ahn HY, Shin JC, Kim YH. et al. Prenatal diagnosis of congenital diaphragmatic hernia in a fetus with 46,XY/46,X,-Y,+der(Y)t(Y;1)(q12;q12) mosaicism: a case report. J Korean Med Sci 2005; 20 (05) 895-898
    CrossrefPubMedGoogle Scholar
  • 91 Otake K, Uchida K, Inoue M. et al. Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case. Pediatr Surg Int 2009; 25 (09) 827-831
    CrossrefPubMedGoogle Scholar
  • 92 Clark RD, Fenner-Gonzales M. Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2. Am J Med Genet 1989; 34 (03) 422-426
    CrossrefPubMedGoogle Scholar
  • 93 Li C. A prenatally recognizable malformation syndrome associated with a recurrent post-zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21). Am J Med Genet A 2010; 152A (09) 2339-2341
    CrossrefPubMedGoogle Scholar
  • 94 Christiansen LR, Lage JM, Wolff DJ, Pai GS, Harley RA. Mosaic duplication 1(q11q44) in an infant with nephroblastomatosis and mineralization of extraplacental membranes. Pediatr Dev Pathol 2005; 8 (01) 115-123
    CrossrefPubMedGoogle Scholar
  • 95 Pacifici PG, Peter C, Yampolsky P, Koenen M, McArdle JJ, Witzemann V. Novel mouse model reveals distinct activity-dependent and -independent contributions to synapse development. PLoS One 2011; 6 (01) e16469
    CrossrefPubMedGoogle Scholar
  • 96 Nagata K, Kiryu-Seo S, Maeda M, Yoshida K, Morita T, Kiyama H. Damage-induced neuronal endopeptidase is critical for presynaptic formation of neuromuscular junctions. J Neurosci 2010; 30 (20) 6954-6962
    CrossrefPubMedGoogle Scholar
  • 97 Casas KA, Mononen TK, Mikail CN. et al. Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. Am J Med Genet A 2004; 130A (04) 331-339
    CrossrefPubMedGoogle Scholar
  • 98 Brackley KJ, Kilby MD, Morton J, Whittle MJ, Knight SJ, Flint J. A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation. Prenat Diagn 1999; 19 (06) 570-574
    CrossrefPubMedGoogle Scholar
  • 99 Reddy KS, Flannery D, Farrer RJ. Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum. Am J Med Genet 1999; 84 (05) 460-468
    CrossrefPubMedGoogle Scholar
  • 100 Callaway DA, Campbell IM, Stover SR. et al. Prioritization of candidate genes for congenital diaphragmatic hernia in a critical region on chromosome 4p16 using a machine-learning algorithm. J Pediatr Genet 2018; 7 (04) 164-173
    Artikel in Thieme ConnectPubMedGoogle Scholar
  • 101 Hildebrand JD, Soriano P. Overlapping and unique roles for C-terminal binding protein 1 (CtBP1) and CtBP2 during mouse development. Mol Cell Biol 2002; 22 (15) 5296-5307
    CrossrefPubMedGoogle Scholar
  • 102 Tautz J, Veenma D, Eussen B. et al. Congenital diaphragmatic hernia and a complex heart defect in association with Wolf-Hirschhorn syndrome. Am J Med Genet A 2010; 152A (11) 2891-2894
    CrossrefPubMedGoogle Scholar
  • 103 Basgul A, Kavak ZN, Akman I, Basgul A, Gokaslan H, Elcioglu N. Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR. Clin Exp Obstet Gynecol 2006; 33 (02) 105-106
    PubMedGoogle Scholar
  • 104 Howe DT, Kilby MD, Sirry H. et al. Structural chromosome anomalies in congenital diaphragmatic hernia. Prenat Diagn 1996; 16 (11) 1003-1009
    CrossrefPubMedGoogle Scholar
  • 105 van Dooren MF, Brooks AS, Hoogeboom AJ. et al. Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia. Am J Med Genet A 2004; 127A (02) 194-196
    CrossrefPubMedGoogle Scholar
  • 106 Sachs M, Brohmann H, Zechner D. et al. Essential role of Gab1 for signaling by the c-Met receptor in vivo. J Cell Biol 2000; 150 (06) 1375-1384
    CrossrefPubMedGoogle Scholar
  • 107 Young RS, Palmer CG, Bender HA, Weaver DD, Hodes ME. Brief cytogenetic case report: a 4.5-year-old girl with deletion 4q syndrome–de novo, 46,XX, del(4) (pter leads to q31:). Am J Med Genet 1982; 12 (01) 103-107
    CrossrefPubMedGoogle Scholar
  • 108 Park Y, Gong G, Choe G, Yu E, Kim KS, Lee I. Jarcho-Levin syndrome–a report of an autopsy case with cytogenetic analysis. J Korean Med Sci 1993; 8 (06) 471-475
    CrossrefPubMedGoogle Scholar
  • 109 Wat MJ, Beck TF, Hernández-García A. et al. Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. Hum Mol Genet 2012; 21 (18) 4115-4125
    CrossrefPubMedGoogle Scholar
  • 110 Longoni M, Lage K, Russell MK. et al. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks. Am J Med Genet A 2012; 158A (12) 3148-3158
    CrossrefPubMedGoogle Scholar
  • 111 Pecile V, Petroni MG, Fertz MC, Filippi G. Deficiency of distal 8p–report of two cases and review of the literature. Clin Genet 1990; 37 (04) 271-278
    CrossrefPubMedGoogle Scholar
  • 112 Borys D, Taxy JB. Congenital diaphragmatic hernia and chromosomal anomalies: autopsy study. Pediatr Dev Pathol 2004; 7 (01) 35-38
    CrossrefPubMedGoogle Scholar
  • 113 Shimokawa O, Miyake N, Yoshimura T. et al. Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia. Am J Med Genet A 2005; 136 (01) 49-51
    CrossrefPubMedGoogle Scholar
  • 114 Slavotinek A, Lee SS, Davis R. et al. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet 2005; 42 (09) 730-736
    CrossrefPubMedGoogle Scholar
  • 115 López I, Bafalliu JA, Bernabé MC, García F, Costa M, Guillén-Navarro E. Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects. Prenat Diagn 2006; 26 (06) 577-580
    CrossrefPubMedGoogle Scholar
  • 116 Wat MJ, Shchelochkov OA, Holder AM. et al. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A 2009; 149A (08) 1661-1677
    CrossrefPubMedGoogle Scholar
  • 117 Arrington CB, Bleyl SB, Matsunami N. et al. A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia. Am J Med Genet A 2012; 158A (12) 3137-3147
    CrossrefPubMedGoogle Scholar
  • 118 Keitges EA, Pasion R, Burnside RD. et al. Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects. Am J Med Genet A 2013; 161A (07) 1755-1758
    CrossrefPubMedGoogle Scholar
  • 119 Ackerman KG, Herron BJ, Vargas SO. et al. Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet 2005; 1 (01) 58-65
    CrossrefPubMedGoogle Scholar
  • 120 Kuechler A, Buysse K, Clayton-Smith J. et al. Five patients with novel overlapping interstitial deletions in 8q22.2q22.3. Am J Med Genet A 2011; 155A (08) 1857-1864
    CrossrefPubMedGoogle Scholar
  • 121 Temple IK, Barber JC, James RS, Burge D. Diaphragmatic herniae and translocations involving 8q22 in two patients. J Med Genet 1994; 31 (09) 735-737
    CrossrefPubMedGoogle Scholar
  • 122 Meech R, Gonzalez KN, Barro M. et al. Barx2 is expressed in satellite cells and is required for normal muscle growth and regeneration. Stem Cells 2012; 30 (02) 253-265
    CrossrefPubMedGoogle Scholar
  • 123 Klaassens M, Scott DA, van Dooren M. et al. Congenital diaphragmatic hernia associated with duplication of 11q23-qter. Am J Med Genet A 2006; 140 (14) 1580-1586
    CrossrefPubMedGoogle Scholar
  • 124 Fernández-Perea Y, García-Díaz L, Sánchez J, Antiñolo G, Borrego S. Ultrasound, echocardiography, MRI, and genetic analysis of a fetus with congenital diaphragmatic hernia and partial 11q trisomy. Case Rep Obstet Gynecol 2017; 2017: 1471704
    PubMedGoogle Scholar
  • 125 Park JP, McDermet MK, Doody AM, Marin-Padilla JM, Moeschler JB, Wurster-Hill DH. Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype. Am J Med Genet 1993; 45 (01) 46-48
    CrossrefPubMedGoogle Scholar
  • 126 Zakowski MF, Wright Y, Ricci Jr A. Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister-Killian syndrome). Am J Med Genet 1992; 42 (03) 323-325
    CrossrefPubMedGoogle Scholar
  • 127 Wilkens A, Liu H, Park K. et al. Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases. Am J Med Genet A 2012; 158A (12) 3002-3017
    CrossrefPubMedGoogle Scholar
  • 128 Ozlü T, Ocak Z, Ozyurt O. Prenatal diagnosis of Pallister Killian Syndrome in a fetus with congenital diaphragmatic hernia, short limbs, and increased nuchal translucency. Taiwan J Obstet Gynecol 2014; 53 (03) 404-405
    CrossrefPubMedGoogle Scholar
  • 129 Jamuar S, Lai A, Unger S, Nishimura G. Clinical and radiological findings in Pallister-Killian syndrome. Eur J Med Genet 2012; 55 (03) 167-172
    CrossrefPubMedGoogle Scholar
  • 130 Tidrenczel Z, P Tardy E, Sarkadi E, Simon J, Beke A, Demeter J. [Prenatally diagnosed case of Pallister‒Killian syndrome]. Orv Hetil 2018; 159 (21) 847-852
    CrossrefPubMedGoogle Scholar
  • 131 Libotte F, Bizzoco D, Gabrielli I. et al. Pallister-Killian syndrome: cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis. Taiwan J Obstet Gynecol 2016; 55 (06) 863-866
    CrossrefPubMedGoogle Scholar
  • 132 Karaman B, Kayserili H, Ghanbari A. et al. Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases. Mol Cytogenet 2018; 11: 45
    CrossrefPubMedGoogle Scholar
  • 133 Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M. Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review. Am J Med Genet 1998; 79 (03) 215-225
    CrossrefPubMedGoogle Scholar
  • 134 High FA, Bhayani P, Wilson JM, Bult CJ, Donahoe PK, Longoni M. De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia. Am J Med Genet A 2016; 170 (09) 2457-2461
    CrossrefPubMedGoogle Scholar
  • 135 Klaassens M, van Dooren M, Eussen HJ. et al. Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet 2005; 76 (05) 877-882
    CrossrefPubMedGoogle Scholar
  • 136 Bettelheim D, Hengstschläger M, Drahonsky R, Eppel W, Bernaschek G. Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 de novo). Clin Genet 1998; 53 (04) 319-320
    CrossrefPubMedGoogle Scholar
  • 137 Mosca AL, Pinson L, Andrieux J. et al. Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses. Prenat Diagn 2011; 31 (09) 912-914
    CrossrefPubMedGoogle Scholar
  • 138 Jaillard S, Loget P, Lucas J. et al. Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect. Eur J Med Genet 2011; 54 (02) 186-188
    CrossrefPubMedGoogle Scholar
  • 139 Biggio Jr JR, Descartes MD, Carroll AJ, Holt RL. Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?. Am J Med Genet A 2004; 126A (02) 183-185
    CrossrefPubMedGoogle Scholar
  • 140 Brady PD, DeKoninck P, Fryns JP, Devriendt K, Deprest JA, Vermeesch JR. Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia. Prenat Diagn 2013; 33 (13) 1283-1292
    CrossrefPubMedGoogle Scholar
  • 141 Castiglia L, Fichera M, Romano C. et al. Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results. Am J Hum Genet 2005; 77 (05) 892-894 , author reply 894–895
    CrossrefPubMedGoogle Scholar
  • 142 Fernandez BA, Roberts W, Chung B. et al. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet 2010; 47 (03) 195-203
    CrossrefPubMedGoogle Scholar
  • 143 Strong M, Garabedian M, Pettigrew A, Barron N, Hansen W. Prenatal diagnosis of partial trisomy 16p and its association with congenital diaphragmatic hernia. Prenat Diagn 2013; 33 (08) 797-799
    CrossrefPubMedGoogle Scholar
  • 144 Yap P, McGillivray G, Norris F, Said JM, Kornman L, Stark Z. Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases. Prenat Diagn 2015; 35 (12) 1265-1267
    CrossrefPubMedGoogle Scholar
  • 145 Goumy C, Laffargue F, Eymard-Pierre E. et al. Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. Am J Med Genet A 2015; 167A (01) 250-253
    CrossrefPubMedGoogle Scholar
  • 146 Hendrix NW, Clemens M, Canavan TP, Surti U, Rajkovic A. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. Fetal Diagn Ther 2012; 31 (02) 129-133
    CrossrefPubMedGoogle Scholar
  • 147 Kammoun M, Souche E, Brady P. et al. Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing. Prenat Diagn 2018; 38 (09) 654-663
    CrossrefPubMedGoogle Scholar
  • 148 Gupta N, Shastri S, Singh PK. et al. Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome. Clin Genet 2016; 90 (05) 470-471
    CrossrefPubMedGoogle Scholar
  • 149 Tan TY, Collins A, James PA. et al. Phenotypic variability of distal 22q11.2 copy number abnormalities. Am J Med Genet A 2011; 155A (07) 1623-1633
    CrossrefPubMedGoogle Scholar
  • 150 Unolt M, DiCairano L, Schlechtweg K. et al. Congenital diaphragmatic hernia in 22q11.2 deletion syndrome. Am J Med Genet A 2017; 173 (01) 135-142
    CrossrefPubMedGoogle Scholar
  • 151 Bétrémieux P, Lionnais S, Beuchée A. et al. Perinatal management and outcome of prenatally diagnosed congenital diaphragmatic hernia: a 1995-2000 series in Rennes University Hospital. Prenat Diagn 2002; 22 (11) 988-994
    CrossrefPubMedGoogle Scholar
  • 152 Oskarsdóttir S, Persson C, Eriksson BO, Fasth A. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr 2005; 164 (03) 146-153
    CrossrefPubMedGoogle Scholar
  • 153 Stark Z, Behrsin J, Burgess T. et al. SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia. Am J Med Genet A 2015; 167A (10) 2319-2326
    CrossrefPubMedGoogle Scholar
  • 154 Taylor J, Aftimos S. Congenital diaphragmatic hernia is a feature of Opitz G/BBB syndrome. Clin Dysmorphol 2010; 19 (04) 225-226
    CrossrefPubMedGoogle Scholar
  • 155 Plaja A, Vendrell T, Sarret E, Torán N, Mediano C. Terminal deletion of Xp in a dysmorphic anencephalic fetus. Prenat Diagn 1994; 14 (05) 410-412
    CrossrefPubMedGoogle Scholar
  • 156 Qidwai K, Pearson DM, Patel GS. et al. Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia. Am J Med Genet A 2010; 152A (06) 1588-1590
    CrossrefPubMedGoogle Scholar
  • 157 Allanson J, Richter S. Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2. J Med Genet 1991; 28 (02) 143-144
    CrossrefPubMedGoogle Scholar
  • 158 Kantarci S, Al-Gazali L, Hill RS. et al. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet 2007; 39 (08) 957-959
    CrossrefPubMedGoogle Scholar
  • 159 Gofin Y, Mackay LP, Machol K. et al. Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. Am J Med Genet A 2021; 185 (03) 836-840
    CrossrefPubMedGoogle Scholar
  • 160 Bleyl SB, Moshrefi A, Shaw GM. et al. Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients. Eur J Hum Genet 2007; 15 (09) 950-958
    CrossrefPubMedGoogle Scholar
  • 161 Kaya TB, Aydemir O, Ceylaner S, Ceylaner G, Tekin AN. Isolated congenital diaphragm hernia associated with homozygous SLIT3 gene variant in dizygous twins. Eur J Med Genet 2021; 64 (07) 104215
    CrossrefPubMedGoogle Scholar
  • 162 Wilmink FA, Papatsonis DN, Grijseels EW, Wessels MW. Cornelia de lange syndrome: a recognizable fetal phenotype. Fetal Diagn Ther 2009; 26 (01) 50-53
    CrossrefPubMedGoogle Scholar
  • 163 Banait N, Fenton A, Splitt M. Cornelia de Lange syndrome due to mosaic NIPBL mutation: antenatal presentation with sacrococcygeal teratoma. BMJ Case Rep 2015; 2015: bcr2015211006
    CrossrefPubMedGoogle Scholar
  • 164 Hague J, Twiss P, Mead Z, Park SM. Clinical diagnosis of classical Cornelia De Lange syndrome made from postmortem examination of second trimester fetus with novel NIPBL pathogenic variant. Pediatr Dev Pathol 2019; 22 (05) 475-479
    CrossrefPubMedGoogle Scholar
  • 165 Jongmans MC, Admiraal RJ, van der Donk KP. et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet 2006; 43 (04) 306-314
    CrossrefPubMedGoogle Scholar
  • 166 Rossetti LZ, Glinton K, Yuan B. et al. Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A 2019; 179 (07) 1376-1382
    CrossrefPubMedGoogle Scholar
  • 167 Jin SC, Homsy J, Zaidi S. et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet 2017; 49 (11) 1593-1601
    CrossrefPubMedGoogle Scholar
  • 168 Pinz H, Pyle LC, Li D. et al. De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. Am J Med Genet A 2018; 176 (04) 969-972
    CrossrefPubMedGoogle Scholar
  • 169 McVeigh TP, Banka S, Reardon W. Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia. Clin Dysmorphol 2015; 24 (04) 135-139
    CrossrefPubMedGoogle Scholar
  • 170 Li Y, Bögershausen N, Alanay Y. et al. A mutation screen in patients with Kabuki syndrome. Hum Genet 2011; 130 (06) 715-724
    CrossrefPubMedGoogle Scholar
  • 171 Zarate YA, Zhan H, Jones JR. Infrequent manifestations of Kabuki syndrome in a patient with novel MLL2 mutation. Mol Syndromol 2012; 3 (04) 180-184
    CrossrefPubMedGoogle Scholar
  • 172 Jordan VK, Beck TF, Hernandez-Garcia A. et al. The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet 2018; 27 (12) 2064-2075
    CrossrefPubMedGoogle Scholar
  • 173 Chassaing N, Ragge N, Kariminejad A. et al. Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia. Clin Genet 2013; 83 (03) 244-250
    CrossrefPubMedGoogle Scholar
  • 174 Pasutto F, Sticht H, Hammersen G. et al. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet 2007; 80 (03) 550-560
    CrossrefPubMedGoogle Scholar
  • 175 Chassaing N, Golzio C, Odent S. et al. Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. Hum Mutat 2009; 30 (05) E673-E681
    CrossrefPubMedGoogle Scholar
  • 176 Golzio C, Martinovic-Bouriel J, Thomas S. et al. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet 2007; 80 (06) 1179-1187
    CrossrefPubMedGoogle Scholar
  • 177 West B, Bove KE, Slavotinek AM. Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration. Am J Med Genet A 2009; 149A (03) 539-542
    CrossrefPubMedGoogle Scholar
  • 178 Bashamboo A, Eozenou C, Jorgensen A. et al. Loss of function of the nuclear receptor NR2F2, encoding COUP-TF2, causes testis development and cardiac defects in 46,XX children. Am J Hum Genet 2018; 102 (03) 487-493
    CrossrefPubMedGoogle Scholar
  • 179 McInerney-Leo AM, Harris JE, Gattas M. et al. Fryns syndrome associated with recessive mutations in PIGN in two separate families. Hum Mutat 2016; 37 (07) 695-702
    CrossrefPubMedGoogle Scholar
  • 180 Alessandri JL, Gordon CT, Jacquemont ML. et al. Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. Eur J Hum Genet 2018; 26 (03) 340-349
    CrossrefPubMedGoogle Scholar
  • 181 Brady PD, Delle Chiaie B, Christenhusz G. et al. A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors. Genet Med 2014; 16 (06) 469-476
    CrossrefPubMedGoogle Scholar
  • 182 Hughes-Benzie RM, Pilia G, Xuan JY. et al. Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families. Am J Med Genet 1996; 66 (02) 227-234
    CrossrefPubMedGoogle Scholar
  • 183 Veugelers M, Cat BD, Muyldermans SY. et al. Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum Mol Genet 2000; 9 (09) 1321-1328
    CrossrefPubMedGoogle Scholar
  • 184 Li M, Shuman C, Fei YL. et al. GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. Am J Med Genet 2001; 102 (02) 161-168
    CrossrefPubMedGoogle Scholar
  • 185 Cottereau E, Mortemousque I, Moizard MP. et al. Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet 2013; 163C (02) 92-105
    CrossrefPubMedGoogle Scholar
  • 186 Slavotinek AM. Single gene disorders associated with congenital diaphragmatic hernia. Am J Med Genet C Semin Med Genet 2007; 145C (02) 172-183
    CrossrefPubMedGoogle Scholar
  • 187 Twigg SR, Kan R, Babbs C. et al. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A 2004; 101 (23) 8652-8657
    CrossrefPubMedGoogle Scholar
  • 188 Twigg SR, Matsumoto K, Kidd AM. et al. The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet 2006; 78 (06) 999-1010
    CrossrefPubMedGoogle Scholar
  • 189 Vasudevan PC, Twigg SR, Mulliken JB, Cook JA, Quarrell OW, Wilkie AO. Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. Eur J Hum Genet 2006; 14 (07) 884-887
    CrossrefPubMedGoogle Scholar