Mutation in δ-Sg Gene in Familial Dilated Cardiomyopathy

Document Type : Original Article


1 Endocrinology and Metabolism Research Center, School of Medicine, Arak University of Medical Sciences, Arak, Iran

2 Cardiovascular Research Institute, Genome Institute of Singapore, Singapore

3 Department of Genetic and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences; Gerfa Namayesh Azmayesh (GENAZMA) Research Institute, Isfahan, Iran

4 Department of Cardiovascular Disease, School of Medicine, Isfahan University of Medical Science, Isfahan, Iran


Background: Mutations in different genes including dystrophin-associated glycoprotein complex caused familial dilated cardiomyopathy which is a genetically heterogeneous disease. The δ-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 δ-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.


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