First Report of Congenital Short Bowel Syndrome in an Iranian Patient Caused by a Mutation in the CLMP Gene-Reference-Cited by-同舟云学术

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

Published:2018-10-26 Issue:02 Volume:08 Page:073-080
ISSN:2146-4596
Container-title:Journal of Pediatric Genetics
language:en
Short-container-title:J Pediatr Genet

Author:

Gharesouran Jalal¹²³,Esfahani Behnaz¹,Valilou Saeed¹,Moradi Mohsen¹,Mousavi Mir⁴,Rezazadeh Maryam¹²

Affiliation:

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

4. Department of Pediatric Endocrinology, Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran

Abstract

AbstractCongenital 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.

Publisher

Georg Thieme Verlag KG

Subject

Genetics (clinical),Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0038-1675339.pdf

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1. CXADR-Like Membrane Protein Regulates Colonic Epithelial Cell Proliferation and Prevents Tumor Growth;Gastroenterology;2024-01

2. CLMP is a tumor suppressor that determines all-trans retinoic acid response in colorectal cancer;Developmental Cell;2023-12

3. The IgSF Cell Adhesion Protein CLMP and Congenital Short Bowel Syndrome (CSBS);International Journal of Molecular Sciences;2023-03-16

4. Congenital Short-Bowel Syndrome Is Associated With a Novel Deletion Mutation in the CLMP Gene: Mutations in CLMP Caused CSBS;Frontiers in Pediatrics;2022-01-17

5. Whole-Exome Sequencing Identified Novel CLMP Mutations in a Family With Congenital Short Bowel Syndrome Presenting Differently in Two Probands;Frontiers in Genetics;2020-12-15