Download PDF
J Pediatr Genet 2017; 06(04): 205-214
DOI: 10.1055/s-0037-1602695
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma

Leila Chouiter
1   Department of Medicine and Pharmacy, Hassan II University of Casablanca, Casablanca, Morocco
,
Sellama Nadifi
2   Laboratory of Medical Genetics and Molecular Pathology, Department of Medicine and Pharmacy, Hassan II University of Casablanca, Casablanca, Morocco
› Author Affiliations
Further Information

Publication History

08 January 2017

22 March 2017

Publication Date:
21 April 2017 (online)

    Permissions and Reprints

Abstract

Primary congenital glaucoma (PCG) is the most common type of infantile glaucoma, yet it remains a relatively rare disease, because the disease is often transmitted in an autosomal recessive pattern. However, PCG occurs up to 10 times more frequently in certain ethnic and geographical groups where consanguineous relationships are common. The aim of this study was to investigate the distribution of mutations in the cytochrome P450 1B1 gene (CYP1B1) in patients with PCG among different populations around the world from 2011 until May 2016. We referred to the electronic databases, such as Medline, Clinicalkey, Scopus, and ScienceDirect, to search for articles that were published in this area. Nineteen records were included in this qualitative synthesis. CYP1B1 mutations were assessed in 1,220 patients with PCG and identified in 41.6% of them. According to these studies, 99 mutations including 60 novel mutations were found. Nonsignificant difference in the sex ratio has been reported. This current review shows that consanguinity plays an important role in the PCG pathogenesis and transmission; however, sporadic mutations have been found in some cases. A difference in penetrance was highlighted by some mutations. The CYP1B1 mutations were mostly found in the Middle East and the Maghreb with a rate of 64.8 and 54.4%, respectively, followed by Europe (34.7%), Asia (21.3%), and finally the United States (14.9%). Founder mutations in different geographical areas have been discovered. For instance, the p.Gly61Glu, p.Arg390His, p.Gly61Glu, c.4,339delG, p.E387Lys, and p.Val320Leu were considered founder mutations for Iran/Saudi Arabia, Pakistan, Lebanon, Morocco, Europe, and Vietnam/South Korea, respectively. Many common mutations in different countries were found, such as in Morocco, where its mutations were similar to seven other countries. These findings suggest that the ethnic differences and the geographical distribution of PCG give us a large CYP1B1 mutation pattern. Genetic tests looking for founder and common mutations should be the first step in genetic screening for patients with PCG.

Keywords

primary congenital glaucoma - CYP1B1 - cytochrome P450 - GLC3A

Funding

None.


 

  • References

  • 1 Sarfarazi M, Stoilov I. Molecular genetics of primary congenital glaucoma [review]. Eye (Lond) 2000; 14 (Pt 3B): 422-428
    CrossrefPubMedGoogle Scholar
  • 2 The Human Gene Mutation Database. 2012. http://www.hgmd.org
    PubMedGoogle Scholar
  • 3 UniProt Database. http://www.uniprot.org/uniprot/Q16678
    PubMed
  • 4 Stoilov I, Jansson I, Sarfarazi M, Schenkman JB. Roles of cytochrome p450 in development. Drug Metabol Drug Interact 2001; 18 (01) 33-55
    PubMedGoogle Scholar
  • 5 Rojas B, Ramírez AI, de-Hoz R, Salazar JJ, Remírez JM, Triviño A. [Structural changes of the anterior chamber angle in primary congenital glaucoma with respect to normal development] [in Spanish]. Arch Soc Esp Oftalmol 2006; 81 (02) 65-71
    PubMedGoogle Scholar
  • 6 Li N, Zhou Y, Du L, Wei M, Chen X. Overview of cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma. Exp Eye Res 2011; 93 (05) 572-579
    CrossrefPubMedGoogle Scholar
  • 7 Badeeb OM, Micheal S, Koenekoop RK, den Hollander AI, Hedrawi MT. CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia. BMC Med Genet 2014; 15: 109 . Doi: 10.1186/s12881-014-0109-2
    PubMedGoogle Scholar
  • 8 Abu-Amero KK, Kondkar AA, Khan AO. Molecular karyotyping of a dysmorphic girl from Saudi Arabia with CYP1B1-negative primary congenital glaucoma. Ophthalmic Genet 2016; 37 (01) 98-101
    PubMedGoogle Scholar
  • 9 Al-Haddad C, Abdulaal M, Badra R, Barikian A, Noureddine B, Farra C. Genotype/phenotype correlation in primary congenital glaucoma patients in the Lebanese population: a pilot study. Ophthalmic Genet 2016; 37 (01) 31-36
    PubMedGoogle Scholar
  • 10 López-Garrido MP, Medina-Trillo C, Morales-Fernandez L. , et al. Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma. Ophthalmology 2013; 120 (04) 716-723
    CrossrefPubMedGoogle Scholar
  • 11 López-Garrido MP, Blanco-Marchite C, Sánchez-Sánchez F. , et al. Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma. Clin Genet 2010; 77 (01) 70-78
    CrossrefPubMedGoogle Scholar
  • 12 Vincent A, Billingsley G, Priston M. , et al. Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. J Med Genet 2001; 38 (05) 324-326
    CrossrefPubMedGoogle Scholar
  • 13 Stoilov I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 1997; 6 (04) 641-647
    CrossrefPubMedGoogle Scholar
  • 14 Libby RT, Smith RS, Savinova OV. , et al. Modification of ocular defects in mouse developmental glaucoma models by tyrosinase. Science 2003; 299 (5612): 1578-1581
    CrossrefPubMedGoogle Scholar
  • 15 van Dorp DB, Delleman JW, Loewer-Sieger DH. Oculocutaneous albinism and anterior chambre cleavage malformations. Not a coincidence. Clin Genet 1984; 26 (05) 440-444
    PubMedGoogle Scholar
  • 16 Bouyacoub Y, Ben Yahia S, Abroug N. , et al. CYP1B1 gene mutations causing primary congenital glaucoma in Tunisia. Ann Hum Genet 2014; 78 (04) 255-263
    CrossrefPubMedGoogle Scholar
  • 17 Stoilov I, Akarsu AN, Alozie I. , et al. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet 1998; 62 (03) 573-584
    CrossrefPubMedGoogle Scholar
  • 18 Chitsazian F, Tusi BK, Elahi E. , et al. CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. J Mol Diagn 2007; 9 (03) 382-393
    CrossrefPubMedGoogle Scholar
  • 19 Tanwar M, Dada T, Sihota R, Das TK, Yadav U, Dada R. Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients. Mol Vis 2009; 15: 1200-1209
    PubMedGoogle Scholar
  • 20 Geyer O, Wolf A, Levinger E. , et al. Genotype/phenotype correlation in primary congenital glaucoma patients from different ethnic groups of the Israeli population. Am J Ophthalmol 2011; 151 (02) 263-271 .e1
    CrossrefPubMedGoogle Scholar
  • 21 Campos-Mollo E, López-Garrido MP, Blanco-Marchite C. , et al. CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. Mol Vis 2009; 15: 417-431
    PubMedGoogle Scholar
  • 22 Bagiyeva S, Marfany G, Gonzalez-Angulo O, Gonzalez-Duarte R. Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations. Mol Vis 2007; 13: 1458-1468
    PubMedGoogle Scholar
  • 23 Stoilov IR, Costa VP, Vasconcellos JP. , et al. Molecular genetics of primary congenital glaucoma in Brazil. Invest Ophthalmol Vis Sci 2002; 43 (06) 1820-1827
    PubMedGoogle Scholar
  • 24 Colomb E, Kaplan J, Garchon HJ. Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum Mutat 2003; 22 (06) 496 . Doi: 10.1002/humu.9197
    PubMedGoogle Scholar
  • 25 Abu-Amero KK, Morales J, Osman MN, Bosley TM. Nuclear and mitochondrial analysis of patients with primary angle-closure glaucoma. Invest Ophthalmol Vis Sci 2007; 48 (12) 5591-5596
    CrossrefPubMedGoogle Scholar
  • 26 Kakiuchi-Matsumoto T, Isashiki Y, Ohba N, Kimura K, Sonoda S, Unoki K. Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma(1). Am J Ophthalmol 2001; 131 (03) 345-350
    CrossrefPubMedGoogle Scholar
  • 27 Belmouden A, Melki R, Hamdani M. , et al. A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. Clin Genet 2002; 62 (04) 334-339
    CrossrefPubMedGoogle Scholar
  • 28 Hilal L, Boutayeb S, Serrou A. , et al. Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol Vis 2010; 16: 1215-1226
    PubMedGoogle Scholar
  • 29 Vasiliou V, Gonzalez FJ. Role of CYP1B1 in glaucoma. Annu Rev Pharmacol Toxicol 2008; 48: 333-358
    CrossrefPubMedGoogle Scholar
  • 30 Chen Y, Jiang D, Yu L. , et al. CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma. Arch Ophthalmol 2008; 126 (10) 1443-1447
    CrossrefPubMedGoogle Scholar
  • 31 Mashima Y, Suzuki Y, Sergeev Y. , et al. Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. Invest Ophthalmol Vis Sci 2001; 42 (10) 2211-2216
    PubMedGoogle Scholar
  • 32 Chen L, Huang L, Zeng A, He J. CYP1B1 gene mutations with incomplete penetrance in a Chinese pedigree with primary congenital glaucoma: a case report and review of literatures. Int J Clin Exp Med 2015; 8 (08) 14538-14541
    PubMedGoogle Scholar
  • 33 El-Ashry MF, Abd El-Aziz MM, Bhattacharya SS. A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG). J Glaucoma 2007; 16 (01) 104-111
    CrossrefPubMedGoogle Scholar
  • 34 Lim SH, Tran-Viet KN, Yanovitch TL. , et al. CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. Am J Ophthalmol 2013; 155 (03) 508-517.e5
    CrossrefPubMedGoogle Scholar
  • 35 Do T, Shei W, Chau PT. , et al. CYP1B1 and MYOC mutations in Vietnamese primary congenital glaucoma patients. J Glaucoma 2016; 25 (05) e491-e498
    CrossrefPubMedGoogle Scholar
  • 36 Yazdani S, Miraftabi A, Pakravan M. , et al. Phenotype and genotype correlation in Iranian primary congenital glaucoma patients. J Glaucoma 2016; 25 (01) 33-38
    CrossrefPubMedGoogle Scholar
  • 37 Morales-Fernandez L, Martinez-de-la-Casa JM, Garcia-Bella J. , et al. Clinical variability of primary congenital glaucoma in a Spanish family with Cyp1b1 gene mutations. J Glaucoma 2015; 24 (08) 630-634
    CrossrefPubMedGoogle Scholar
  • 38 Cardoso MS, Anjos R, Vieira L, Ferreira C, Xavier A, Brito C. CYP1B1 gene analysis and phenotypic correlation in Portuguese children with primary congenital glaucoma. Eur J Ophthalmol 2015; 25 (06) 474-477
    CrossrefPubMedGoogle Scholar
  • 39 Berraho A, Serrou A, Fritez N. , et al. Genotype-phenotype correlation in Moroccan patients with primary congenital glaucoma. J Glaucoma 2015; 24 (04) 297-305
    CrossrefPubMedGoogle Scholar
  • 40 de Melo MB, Mandal AK, Tavares IM. , et al. Genotype-phenotype correlations in CYP1B1-associated primary congenital glaucoma patients representing two large cohorts from India and Brazil. PLoS One 2015; 10 (05) e0127147 . Doi: 10.1371/journal.pone.0127147
    CrossrefPubMedGoogle Scholar
  • 41 Vogt G, Kádasi ĽL, Czeizel E. Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report [in Hungarian]. Orv Hetil 2014; 155 (33) 1325-1328
    CrossrefPubMedGoogle Scholar
  • 42 Chen X, Chen Y, Wang L. , et al. CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment. Br J Ophthalmol 2014; 98 (02) 246-251
    CrossrefPubMedGoogle Scholar
  • 43 Sheikh SA, Waryah AM, Narsani AK. , et al. Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations. Mol Vis 2014; 20: 991-1001
    PubMedGoogle Scholar
  • 44 Khan AO, Aldahmesh MA, Mohamed JY, Hijazi H, Alkuraya FS. CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children. J AAPOS 2012; 16 (06) 571-572
    CrossrefPubMedGoogle Scholar
  • 45 Suh W, Kee C. A clinical and molecular genetics study of primary congenital glaucoma in South Korea. Br J Ophthalmol 2012; 96 (11) 1372-1377
    CrossrefPubMedGoogle Scholar
  • 46 Abu-Amero KK, Osman EA, Mousa A. , et al. Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. Mol Vis 2011; 17: 2911-2919
    PubMedGoogle Scholar