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

Jalal Gharesouran; Behnaz Salek Esfahani; Saeed Farajzadeh Valilou; Mohsen Moradi; Mir Hadi Mousavi; Maryam Rezazadeh

doi:10.1055/s-0038-1675339

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

J Pediatr Genet. 2019 Jun;8(2):73-80. doi: 10.1055/s-0038-1675339. Epub 2018 Oct 26.

Authors

Jalal Gharesouran^{1

2

3}, Behnaz Salek Esfahani¹, Saeed Farajzadeh Valilou¹, Mohsen Moradi¹, Mir Hadi Mousavi⁴, Maryam Rezazadeh^{1

2}

Affiliations

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

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

Publication types

Case Reports