Congenital Short-Bowel Syndrome Is Associated With a Novel Deletion Mutation in the CLMP Gene: Mutations in CLMP Caused CSBS

Fen-Fen Ou; Ming-Jie Li; Li-Bin Mei; Xin-Zhu Lin; Yan-An Wu

doi:10.3389/fped.2021.778859

Congenital Short-Bowel Syndrome Is Associated With a Novel Deletion Mutation in the CLMP Gene: Mutations in CLMP Caused CSBS

Front Pediatr. 2022 Jan 17:9:778859. doi: 10.3389/fped.2021.778859. eCollection 2021.

Authors

Fen-Fen Ou^{1

2}, Ming-Jie Li³, Li-Bin Mei¹, Xin-Zhu Lin^{1

2}, Yan-An Wu³

Affiliations

¹ Department of Neonatology, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, China.
² Xiamen Key Laboratory of Perinatal-Neonatal Infection, Xiamen, China.
³ Department of Clinical Laboratory, Xiang'an Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, China.

Abstract

Objective: To describe the clinical presentation and novel mutation in the coxsackie and adenovirus receptor-like membrane protein (CLMP) gene in a Chinese family with congenital short bowel syndrome (CSBS). Methods: We collected clinical data from a Chinese family with inherited CSBS, and performed whole exon sequencing of the children and their parents. The pathogenic sites of candidate genes were targeted, and the detected exon deletions were verified by quantitative PCR. Results: Two siblings in this family presented with bilious vomiting, and were diagnosed with CSBS on laparotomy. Two siblings and their parents underwent complete exome sequencing of the peripheral blood. Both children had CLMP gene exons 3-5 homozygous deletion mutation, while the parents had a heterozygous mutation. Conclusion: This study identified a novel mutation of the CLMP gene in a Chinese family with CSBS. Identification of this mutation can help with genetic counseling and prenatal diagnosis of CSBS.

Keywords: CLMP gene; WES-whole-exome sequencing; congenital short bowel syndrome; homozygous deletion; quantitative PCR.