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Article

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

American journal of human genetics - 6 Jul 2017

Halim Danny, Brosens Erwin, Muller Françoise, Wangler Michael F, Beaudet Arthur L, Lupski James R, Akdemir Zeynep H Coban, Doukas Michael, Stoop Hans J, de Graaf Bianca M, Brouwer Rutger W W, van Ijcken Wilfred F J, Oury Jean-François, Rosenblatt Jonathan, Burns Alan J, Tibboel Dick, Hofstra Robert M W, Alves Maria M

Abstract excerpt

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital disorder characterized by loss of smooth muscle contraction in the bladder and intestine. To date, three genes are known to be involved in MMIHS pathogenesis: ACTG2, MYH11, and LMOD1. However, for approximately 10% of affected individuals, the genetic cause of the disease is unknown, suggesting that other loci are most likely...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28602422
DOI: 10.1016/j.ajhg.2017.05.011
PMCID: PMC5501771

Genes

MYLK
ACTG2
LMOD1
MYH11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.PMID 28602422Read ↗

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Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and miceSemantic proximity Read ↗

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Trio-based whole-exome sequencing and Minigene assay identify a novel MYH11 splice site variant (c.2997+5G>C) in recurrent fetal megacystisSemantic proximity Read ↗

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