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

• DOI: 10.3389/fped.2021.778859
• Publication Date: 2022-01-17T15:47:44Z
• Authors: Fen-fen Ou; Ming-jie Li; Li-bin Mei; Xin-Zhu Lin; Yan-an Wu
• Keywords: 03 medical and health sciences; 0302 clinical medicine; congenital short bowel syndrome; quantitative PCR; WES-whole-exome sequencing; CLMP gene; homozygous deletion; Pediatrics; RJ1-570; 3. Good health

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