Familial chronic megacolon presenting in childhood or adulthood: Seeking the presumed gene association

Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society
Michael CamilleriEric W Klee

Abstract

We identified a pedigree over five generations with 49 members, some of whom had chronic megacolon presenting in adolescence or adulthood. We aimed to assess the genetic cause of chronic megacolon through clinical and DNA studies. After ethical approval and informed consent, family members provided answers to standard bowel disease questionnaires, radiological or surgical records, and DNA (buccal mucosal scraping). Exome DNA sequencing of colon tissue or blood DNA from seven family members with colon or duodenal dilatation, or no megacolon (n = 1) was carried out. Sanger sequencing was performed in 22 additional family members to further evaluate candidate variants. The study focused on genes of potential relevance to enteric nerve (ENS) maturation and Hirschsprung's disease or megacolon, based on the literature (GFRA1, NKX2-1, KIF26A, TPM3, ACTG2, SCN10A, and C17orf107 [CHRNE]) and other genetic variants that co-segregated with megacolon in the six affected family members. Information was available in all except five members alive at time of study; among 30 members who provided DNA, six had definite megacolon, one megaduodenum, seven significant constipation without bowel dilatation, and 16 normal bowel function by questionnai...Continue Reading

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Citations

Apr 7, 2019·Digestive Diseases and Sciences·Xiao Jing Wang, Michael Camilleri
Jun 27, 2019·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·Wendy YangPei-Lung Chen
Jan 29, 2020·World Journal of Gastroenterology : WJG·Wan-Ru MaDa-Jun Deng
Jul 29, 2020·Gastroenterology Clinics of North America·Michael Camilleri, Justin Brandler

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