title: Mutation in δ-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 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.
  
  
  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.
authors.affiliation: Endocrinology and Metabolism Research Center, School of Medicine, Arak University of Medical Sciences, Arak, Iran.
authors.forename: Marzieh
authors.initials: M
authors.lastname: Asadi
authors.affiliation: Cardiovascular Research Institute, Genome Institute of Singapore, Singapore.
authors.forename: Roger
authors.initials: R
authors.lastname: Foo
authors.affiliation: Department of Genetic and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran; Gerfa Namayesh Azmayesh (GENAZMA) Research Institute, Isfahan, Iran.
authors.forename: Ahmad Reza
authors.initials: AR
authors.lastname: Salehi
authors.affiliation: Department of Genetic and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran; Gerfa Namayesh Azmayesh (GENAZMA) Research Institute, Isfahan, Iran.
authors.forename: Rasoul
authors.initials: R
authors.lastname: Salehi
authors.affiliation: Department of Cardiovascular Disease, School of Medicine, Isfahan University of Medical Science, Isfahan, Iran.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Samienasab
keywords: Familial dilated cardiomyopathy; genetic analysis; next generation sequencing; δ-SG gene