家族性扩张型心肌病中δ-Sg基因的突变
Mutation in δ-Sg Gene in Familial Dilated Cardiomyopathy.
作者信息
Asadi Marzieh, Foo Roger, Salehi Ahmad Reza, Salehi Rasoul, Samienasab Mohammad Reza
机构信息
Endocrinology and Metabolism Research Center, School of Medicine, Arak University of Medical Sciences, Arak, Iran.
Cardiovascular Research Institute, Genome Institute of Singapore, Singapore.
出版信息
Adv Biomed Res. 2017 Mar 7;6:32. doi: 10.4103/2277-9175.188492. eCollection 2017.
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.
背景
包括肌营养不良相关糖蛋白复合体在内的不同基因的突变会导致家族性扩张型心肌病，这是一种基因异质性疾病。δ-SG基因包含9个外显子，跨越433 kb的基因组DNA区域。它编码一种35 kDa的单次跨膜II型糖蛋白。
材料与方法
在本研究中，我们首次在伊朗采用下一代测序方法对一个有心肌梗死或猝死家族史的大家庭中的6名患者进行了筛查。
结果
通过下一代测序方法，我们在6名患者中的2名中发现了δ-SG基因的错义突变（p.R97Q）。
结论
家族性扩张型心肌病患者中的错义突变（p.R97Q）首次在患有心脏病的伊朗患者中被报道。尽管该突变在伊朗的其他人群中已为人所知，但此前尚未有报道。
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