The discovery of an ACTG2 heterozygous dominant variation in familial visceral myopathy was followed by the discovery of other variants in various types of intestinal dysmotility diseases. For a study, researchers sought to characterize the many phenotypes of this recently discovered uncommon illness. Four additional individuals and a comprehensive review of ACTG2-related illnesses were reported. We looked at population frequency and utilized in silico gene damage estimations. The study of genotype-phenotype connections.
About 103 patients (52% of whom were female) were drawn from 14 publications. Around 28 distinct variations were examined, all of which were extremely unusual, with 27 expected to be highly harmful. The median score for Combined Annotation Dependent Depletion (CADD) was 29.2 (interquartile range: 26.3–29.4). The majority of patients (66%) required intermittent bladder catheterization (48.5%), and more than half were reliant on parenteral nutrition (PN) (53%). One-quarter of the patients (25.7%) died, and six required transplantation (5.8%). When compared to boys, girls had a greater risk of microcolon (P=0.009), PN dependence (P=0.003), death/transplant (P=0.029), and early illness start (at 2 years of age) was related to megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) characteristics. There was no statistically significant relationship between illness features and CADD scores.
Damaged ACTG2 variations were uncommon, frequently related to the MMIHS phenotype, and had a broad range of phenotypic variance. Symptoms commonly emerge during the prenatal period. However, they could appear at any age. The condition progressed with many surgical operations, PN support, and death. Girls with ACTG2 mutations had a higher risk of poor outcomes.