Mutation in delta-Sg Gene in Familial Dilated Cardiomyopathy

Abstract

BACKGROUND: Mutations in different genes including dystrophin-associated glycoprotein complex caused familial dilated cardiomyopathy which is a genetically heterogeneous disease. The delta-SG gene contains nine exons spanning a 433-kb region of genomic DNA. It encodes a 35-kDa, singlepass, and type II transmembrane glycoprotein. MATERIALS AND METHODS: In this study for the first time in Iran we screened 6 patients of a large family that they had positive family history of MI or sudden death by next generation sequencing method. RESULTS: By employing NGS method we found missense mutation (p.R97Q) of delta-SG gene in 2 of 6 patients. CONCLUSIONS: The missense mutation (p.R97Q) in familial DCM patients is reported for the first time in Iranian patients with cardiac disease. Although this mutation is already known in other populations in Iran, it is not reported before.