The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders.

ABSTRACT:

Background and aims

The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms of intestinal dysmotility disorders. we aimed to describe the diverse phenotype of this newly reported and rare disease.

Methods

Report of 4 new patients, and a systematic review of ACTG2-related disorders. we analyzed the population frequency and used in silico gene damaging predictions. Genotype-phenotype correlations were explored.

Results

One hundred three patients (52% girls), from 14 publications, were included. Twenty-eight unique variants were analyzed, all exceedingly rare, and 27 predicted to be highly damaging. The median Combined Annotation Dependent Depletion (CADD) scor

SUBMITTER: Sandy NS 

PROVIDER: S-EPMC9632465 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature