title: Mutation in Actin γ-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients.
abstract: The aim of this study was to identify the underlying molecular mechanism for the development of megacystis microcolon intestinal hypoperistalsis syndrome in 4 Chinese patients. We found a c.770G>A (p.R257H) mutation in 3 patients, and a c.769C>T (p.R257C) mutation in the fourth patient by using whole-exome sequencing and targeted Sanger sequencing. The immunohistochemical investigation and transmission electron microscopy revealed an apparent defect of the intestinal smooth muscle, and hypoganglionosis. Our report suggested that R257 variant in the ACTG2 appear to be more frequent in populations of Asian ancestry; mutation of this locus could cause alterations of the intestinal and bladder smooth muscle filaments.
authors.affiliation: *Department of Pediatric Surgery, Xin Hua Hospital, School of Medicine, Shanghai Jiao Tong University †Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition ‡Shanghai Institute for Pediatric Research, Shanghai, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Lu
authors.forename: Yongtao
authors.initials: Y
authors.lastname: Xiao
authors.forename: Jianhu
authors.initials: J
authors.lastname: Huang
authors.forename: Yijing
authors.initials: Y
authors.lastname: Tao
authors.forename: Weihui
authors.initials: W
authors.lastname: Yan
authors.forename: Lina
authors.initials: L
authors.lastname: Lu
authors.forename: Yi
authors.initials: Y
authors.lastname: Cao
authors.forename: Wei
authors.initials: W
authors.lastname: Cai
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000199:Actins / Q000235:genetics*; D002681:China; D003106:Colon / Q000002:abnormalities*; D059472:Exome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007418:Intestinal Pseudo-Obstruction / Q000175:diagnosis / Q000235:genetics*; D007421:Intestine, Small / Q000473:pathology; D008297:Male; D009130:Muscle, Smooth / Q000648:ultrastructure; D009154:Mutation; D001743:Urinary Bladder / Q000002:abnormalities*; D000073336:Whole Genome Sequencing
chemical_list: C579475:ACTG2 protein, human; D000199:Actins