Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.

ABSTRACT: Pediatric intestinal pseudo-obstruction (PIPO) is a heterogeneous condition characterized by impaired gastrointestinal propulsion, a broad clinical spectrum, and variable severity. Several molecular bases underlying primary PIPO have been identified, of which autosomal dominant ACTG2-related visceral myopathy is the most common in both familial or sporadic primary PIPO cases. We present a family with autosomal recessive ACTG2-related disease in which both parents have mild gastrointestinal symptoms and sons have severe PIPO and bladder dysfunction.

Methods

Clinical genome sequencing was performed on the patients and the mother. Immunohistochemistry was performed on intestinal tissue from the patients to show expression levels of the ACTG2.

Results

Genome sequencing ide

SUBMITTER: Mori M 

PROVIDER: S-EPMC10158422 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature