Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

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...

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Main Authors: Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M Muzny, Shalini Jhangiani, Baylor-Hopkins Center for Mendelian Genomics, Richard A Gibbs, James R Lupski, Arthur Beaudet
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-03-01
Series:PLoS Genetics
Online Access:https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1004258&type=printable
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