mutation in δ-sg gene in familial dilated cardiomyopathy

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ID: 170325
2017
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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. 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.
Reference Key
asadi2017advancedmutation Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Marzieh Asadi;Roger Foo;Ahmad Reza Salehi;Rasoul Salehi;Mohammad Reza Samienasab
Journal microbiological research
Year 2017
DOI
10.4103/2277-9175.188492
URL
http://www.advbiores.net/article.asp?issn=2277-9175;year=2017;volume=6;issue=1;spage=32;epage=32;aulast=Asadi
Keywords
next generation sequencing genetic analysis

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