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Identification of a LMNA (c.646C>T) variant by whole-exome sequencing in combination with a dilated cardiomyopathy (DCM) related gene filter in a family with familiar DCM.

作者信息

Chen Liang, Zhou Zhong-Yin, Lu Hui-He, Xie Ye, Li Gang, Huang Jian-Fei, Zhao Dong-Sheng

机构信息

Department of Cardiology, The Second Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.

Department of Cardiology, The First Affiliated hospital of Hubei University of Technology, Xianning, Hubei 437600, China.

出版信息

J Biomed Res. 2018 Jul 23;32(4):314-316. doi: 10.7555/JBR.32.20180003.

DOI:10.7555/JBR.32.20180003
PMID:30007954
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6117609/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e30/6117609/b212c0bd4b18/jbr-32-04-314-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e30/6117609/b212c0bd4b18/jbr-32-04-314-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e30/6117609/b212c0bd4b18/jbr-32-04-314-fig1.jpg

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Identification of a LMNA (c.646C>T) variant by whole-exome sequencing in combination with a dilated cardiomyopathy (DCM) related gene filter in a family with familiar DCM.在一个患有家族性扩张型心肌病（DCM）的家庭中，通过全外显子组测序结合DCM相关基因筛选鉴定出LMNA（c.646C>T）变异。
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本文引用的文献

1
Genetic Variations Leading to Familial Dilated Cardiomyopathy.导致家族性扩张型心肌病的基因变异
Mol Cells. 2016 Oct;39(10):722-727. doi: 10.14348/molcells.2016.0061. Epub 2016 Oct 31.
2
A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.通过全外显子组测序结合先天性心脏病相关基因筛选鉴定出的TBX20基因的一种新型变异（p.D176N）与家族性房间隔缺损相关。
J Zhejiang Univ Sci B. 2014 Sep;15(9):830-7. doi: 10.1631/jzus.B1400062.
3
A1180V of cardiac sodium channel gene (SCN5A): is it a risk factor for dilated cardiomyopathy or just a common variant in Han Chinese?
心脏钠离子通道基因（SCN5A）的 A1180V 突变：是扩张型心肌病的危险因素，还是汉族人群中的常见变异？
Dis Markers. 2013;35(5):531-5. doi: 10.1155/2013/659528. Epub 2013 Oct 20.
4
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. lamin A/C 基因突变携带者主要心脏事件和死亡率的性别差异。
Eur J Heart Fail. 2013 Apr;15(4):376-84. doi: 10.1093/eurjhf/hfs191. Epub 2012 Nov 25.
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Cardiomyopathies: classification, diagnosis, and treatment.心肌病：分类、诊断和治疗。
Heart Fail Clin. 2012 Jan;8(1):53-78. doi: 10.1016/j.hfc.2011.08.014.
6
Clinical and genetic heterogeneity in laminopathies.先天性肌营养不良症的临床和遗传异质性。
Biochem Soc Trans. 2011 Dec;39(6):1687-92. doi: 10.1042/BST20110670.
7
Long QT syndrome mutation detection by SNaPshot technique.应用 SNaPshot 技术进行长 QT 综合征基因突变检测。
Int J Legal Med. 2012 Nov;126(6):969-73. doi: 10.1007/s00414-011-0598-x. Epub 2011 Jul 18.
8
Familial dilated cardiomyopathy: clinical features in French families.家族性扩张型心肌病：法国家族中的临床特征
Eur J Heart Fail. 1999 Dec;1(4):353-61. doi: 10.1016/s1388-9842(99)00047-1.
9
Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group.家族性扩张型心肌病：遗传和表型异质性的证据。心肌疾病研究组。
J Am Coll Cardiol. 1999 Jul;34(1):181-90. doi: 10.1016/s0735-1097(99)00172-2.