Gastrointestinal neuromuscular disordersGene: MYH11
Heterozygous dominant negative MYH11 pathogenic variants have been associated with thoracic aortic aneurysm and dissection while biallelic null alleles have been associated with megacystis microcolon intestinal hypoperistalsis syndrome. Recent report of two families with heterozygous protein‐elongating MYH11 variants affecting the SM2 isoforms of MYH11 as a cause for severe gastrointestinal dysmotility. The authors hypothesise that the mechanistic pathogenesis of this disease, dominant hypercontractile loss‐of‐function, is distinct from those implicated in other diseases involving MYH11 dysfunction.
Sources: Expert list
Created: 23 Apr 2020, 3:30 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome
Variants in this GENE are reported as part of current diagnostic practice
gene: MYH11 was added gene: MYH11 was added to Gastrointestinal neuromuscular disorders. Sources: Expert list Mode of inheritance for gene: MYH11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYH11 were set to 31944481; 29575632 Phenotypes for gene: MYH11 were set to Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome Review for gene: MYH11 was set to GREEN gene: MYH11 was marked as current diagnostic