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

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.