Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature.

ABSTRACT:

Background

Mutations in the PRKAG2 gene encoding the 5' Adenosine Monophosphate-Activated Protein Kinase (AMPK), specifically in its γ2 regulatory subunit, lead to Glycogen storage disease of heart, fetal congenital disorder (PRKAG2 syndrome). These mutations are rare, and their functional roles have not been fully elucidated. PRKAG2 syndrome is autosomal dominant disorder inherited with full penetrance. It is characterized by the accumulation of glycogen in the heart tissue, which is clinically manifested as hypertrophic cardiomyopathy. There is little knowledge about the characteristics of this disease. This study reports a genetic defect in an Iranian family with liver problems using targeted-gene sequencing.

Case presentation

A 4-year-old girl presented with short statur

SUBMITTER: Beyzaei Z 

PROVIDER: S-EPMC7845137 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature