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

BMC Medical Genomics

Fatih Ezgu¹  Bita Geramizadeh²  Zahra Beyzaei²  Alireza Shojazadeh³  Alireza Alborzi³ 

[1]Department of Pediatric Metabolism and Genetic, Faculty of Medicine, Gazi University

[2]Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences

[3]Student Research Committee, Shiraz University of Medical Sciences

关键词: PRKAG2 syndrome;    Cirrhosis;    Wolff–Parkinson–White syndrome;    Targeted gene sequencing;   

DOI  :  10.1186/s12920-021-00879-1

来源: DOAJ

【 摘 要 】

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 stature, hepatomegaly, and liver cirrhosis. As there was no specific diagnosis made based on the laboratory data and liver biopsy results, targeted-gene sequencing (TGS) was performed to detect the molecular basis of the disease. It was confirmed that this patient carried a novel heterozygous variant in the PRKAG2 gene. The echocardiography was a normal. Conclusion A novel heterozygous variant c.592A > T (p.Met198Leu) expands the mutational spectrum of the PRKAG2 gene in this family. Also, liver damage in patients with PRKAG2 syndrome has never been reported, which deserves further discussion.

【 授权许可】

Unknown