Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

• Published in: PLoS genetics Vol. 10; no. 3; p. e1004258
• Main Authors: Wangler, Michael F., Gonzaga-Jauregui, Claudia, Gambin, Tomasz, Penney, Samantha, Moss, Timothy, Chopra, Atul, Probst, Frank J., Xia, Fan, Yang, Yaping, Werlin, Steven, Eglite, Ieva, Kornejeva, Liene, Bacino, Carlos A., Baldridge, Dustin, Neul, Jeff, Lehman, Efrat Lev, Larson, Austin, Beuten, Joke, Muzny, Donna M., Jhangiani, Shalini, Gibbs, Richard A., Lupski, James R., Beaudet, Arthur
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 01.03.2014; Public Library of Science (PLoS)
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Actins - genetics; Adolescent; Adult; Biology and Life Sciences; Child; Child, Preschool; Colon - abnormalities; Colon - pathology; Epigenetic inheritance; Exome; Female; Gene mutations; Genes; Genetic aspects; Genetic disorders; Genetic research; Genomics; Health aspects; Heterozygote; Humans; Intestinal Pseudo-Obstruction - genetics; Intestinal Pseudo-Obstruction - pathology; Male; Medicine and Health Sciences; Muscle, Smooth - metabolism; Mutation; Mutation - genetics; Parenteral nutrition; Physiological aspects; Smooth muscle; Studies; Urinary Bladder - abnormalities; Urinary Bladder - pathology; United States

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this syndrome has rema...