Clarisse Billon, Giorgina Barbara Piccoli, Jean-Madeleine de Sainte Agathe, Radka Stoeva, Nicolas Derive, Laurence Heidet, Dominique Berrebi, Patrick Bruneval, Xavier Jeunemaitre, Marguerite Hureaux
Megacystis-microcolon-hypoperistalsis-syndrome (MMIHS) is a rare and early-onset congenital disease characterized by massive abdominal distension due to a large non-obstructive bladder, a microcolon and decreased or absent intestinal peristalsis. While in most cases inheritance is autosomal dominant and associated with heterozygous variant in ACTG2 gene, an autosomal recessive transmission has also been described including pathogenic bialellic loss-of-function variants in MYH11. We report here a novel family with visceral myopathy related to MYH11 gene, confirmed by whole genome sequencing (WGS)...
April 16, 2024: Molecular Genetics and Genomics: MGG