Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.

European journal of human genetics : EJHG - 1 Sept 2015

Gauthier Julie, Ouled Amar Bencheikh Bouchra, Hamdan Fadi F, Harrison Steven M, Baker Linda A, Couture Françoise, Thiffault Isabelle, Ouazzani Reda, Samuels Mark E, Mitchell Grant A, Rouleau Guy A, Michaud Jacques L, Soucy Jean-François

Abstract excerpt

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. Recent studies indicate that heterozygous variants in ACTG2, which codes for a smooth muscle actin, cause MMIHS. However, such variants do not explain MMIHS cases that show an autosomal recessive mode of inheritance. We performed exome...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Colon
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intestinal Mucosa

Share to Intestinal Obstruction

Share to Intestinal Pseudo-Obstruction

Share to Intestines

Share to Myosin Heavy Chains

Share to Urinary Bladder

Source

Open in PubMed Open full text

Identifiers

PMID: 25407000
DOI: 10.1038/ejhg.2014.256
PMCID: PMC4538215

Genes

MYH11
ACTG2

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.PMID 25407000Read ↗

Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese familySemantic proximity Read ↗

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

Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies.Semantic proximity Read ↗

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

Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.Semantic proximity Read ↗

16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndromeSemantic proximity Read ↗

Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.Semantic proximity Read ↗

Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes.Semantic proximity Read ↗

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.Semantic proximity Read ↗

Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.Semantic proximity Read ↗

Genotype-phenotype correlation and management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: a descriptive cohort study.Semantic proximity Read ↗

Myh11 haploinsufficiency recapitulates megacystis and voiding dysfunction in a mouse model of MMIHS.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.