Actg2D245G mutation cause megacystis-microcolon-intestinal hypoperistalsis syndrome by impairing smooth muscle contractility

jpedsurg.org

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS; OMIM:619431) is a congenital disorder of the urinary and digestive systems that is caused by contractile dysfunction of smooth muscles. Recent studies have shown that ACTG2(HGNC:145) is the main gene involved in the pathogenesis of this disease. Herein, we aimed to investigate the correlation between the Actg2D245G mutation and disease phenotypes.

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Article · Jul 2025 · 1 min read

In brief

This study examines how a specific ACTG2 gene mutation (D245G) causes megacystis-microcolon-intestinal hypoperistalsis syndrome, a rare congenital condition affecting smooth muscle function in the urinary and digestive systems. The research investigates the molecular mechanisms linking this genetic variant to impaired muscle contractility and resulting clinical phenotypes.

MMIHS is caused by smooth muscle contractile dysfunction affecting both urinary and digestive systems
ACTG2 gene mutations are the primary genetic cause of MMIHS (OMIM:619431)
The Actg2D245G mutation specifically impairs smooth muscle contractility leading to MMIHS phenotype
Understanding ACTG2 mutations enables genetic diagnosis and counseling for this congenital disorder

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