Details

Autor(en) / Beteiligte

• Chuang, Yao-Hung
• Fan, Wen-Lang
• Chu, Yu-De
• Liang, Kung-Hao
• Yeh, Yuan-Ming
• Chen, Chien-Chang
• Chiu, Cheng-Hsun
• Lai, Ming-Wei

Titel

Whole-Exome Sequencing Identified Novel CLMP Mutations in a Family With Congenital Short Bowel Syndrome Presenting Differently in Two Probands

Ist Teil von

• Frontiers in genetics, 2020-12, Vol.11, p.574943-574943

Ort / Verlag

Switzerland: Frontiers Media S.A

Erscheinungsjahr

2020

Link zum Volltext

Quelle

EZB Free E-Journals

Beschreibungen/Notizen

• Congenital short bowel syndrome (CSBS) is a rare condition characterized by an inborn shortening of bowel length with loss of intestinal functions, which often combines malrotation. CXADR-like membrane protein ( ) and filamin A ( ) gene mutations are the two major causes of this inherited defect. We presented two siblings with the older brother suffering from a laparotomy for bowel obstruction due to malrotation on the 17th day after birth. The younger sister encountered a laparotomy for lactobezoar at 6 months old. CSBS was diagnosed by measurement of the bowel length during the operations. Compound heterozygous mutations with the paternal allele harboring a long deletion across exon 3-5 and the maternal allele bearing a non-sense mutation of exon 3 (c.235C > T, p.Q79 ) were identified in both cases. They are the first reported familial CSBS caused by novel mutations in Taiwan.