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J Pediatr Genet 2019; 08(02): 073-080
DOI: 10.1055/s-0038-1675339
Case Report
Georg Thieme Verlag KG Stuttgart · New York

First Report of Congenital Short Bowel Syndrome in an Iranian Patient Caused by a Mutation in the CLMP Gene

Jalal Gharesouran   ∗
1   Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
2   Division of Medical Genetics, Tabriz Children's Hospital, University of Medical Sciences, Tabriz, Iran
3   Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
,
Behnaz Salek Esfahani   ∗
1   Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
,
Saeed Farajzadeh Valilou
1   Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
,
Mohsen Moradi
1   Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
,
Mir Hadi Mousavi
4   Department of Pediatric Endocrinology, Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
,
Maryam Rezazadeh
1   Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
2   Division of Medical Genetics, Tabriz Children's Hospital, University of Medical Sciences, Tabriz, Iran
› Author Affiliations
Further Information

Publication History

25 June 2018

15 September 2018

Publication Date:
26 October 2018 (online)

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Abstract

Congenital short bowel syndrome (CSBS) is a rare congenital neonatal disorder. CSBS results from intestinal impairment during embryogenesis. Mutated CXADR-like membrane protein (CLMP) and Filamin A genes are involved in the cause of CSBS. In this study, due to our misdiagnosis, we had to perform whole exome sequencing on the patient, and also we implemented cosegregation analysis on his parents with consanguineous marriage and also parents' mothers. We identified a homozygous loss of function mutation in the CLMP gene in exon 5 (c.664C > T, p.R222X). Also, both parents and grandmothers of the proband were heterozygous for this mutation. Loss of function mutation in CLMP causes CSBS, leading to impaired intestinal development.

Keywords

congenital short bowel syndrome - CXADR-like membrane protein - whole exome sequencing

Ethical Approval

All procedures performed in the study involving human participants were in accordance with the ethical standards of the institutional and with the 1964 Helsinki declaration and its later amendments.


Informed Consent

Informed consent was obtained from parents of participant included in the study.


∗ Both authors contributed equally to this work.


 

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