机构：[1]Faculty of Life Science and Technology, Center for Molecular Diagnosis in Yunnan Province, Kunming University of Science and Technology, Kunming 650500, China.[2]The Cardiac Department, The First Hospital of Yunnan Province, Kunming 650034, China.
As a common cardiac disease mainly caused by gene mutations in sarcomeric cytoskeletal, calcium-handling, nuclear envelope, desmosomal, and transcription factor genes, inherited cardiomyopathy is becoming one of the major etiological factors of sudden cardiac death (SCD) and heart failure (HF). This disease is characterized by remarkable genetic heterogeneity, which makes it difficult to screen for pathogenic mutations using Sanger sequencing. In the present study, three probands, one with familial hypertrophic cardiomyopathy (FHCM) and two with familial dilated cardiomyopathy (FDCM), were recruited together with their respective family members. Using next-generation sequencing technology (NGS), 24 genes frequently known to be related to inherited cardiomyopathy were screened. Two hot spots (TNNI3-p.Arg145Gly, and LMNA-p.Arg190Trp) and double (LMNA-p.Arg190Trp plus MYH7-p.Arg1045His) heterozygous mutations were found to be highly correlated with familial cardiomyopathy. FDCM patients with doubly heterozygous mutations show a notably severe phenotype as we could confirm in our study; this indicates that the double mutations had a dose effect. In addition, it is proposed that genetic testing using NGS technology can be used as a cost-effective screening tool and help guide the treatment of patients with familial cardiomyopathy particularly regarding the risk of family members who are clinically asymptomatic.
基金：
Yunnan province,
China (no. 2013FC007).
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2015]版：
大类|3 区生物
小类|3 区生物工程与应用微生物4 区医学：研究与实验
最新[2023]版：
无
第一作者：
第一作者机构：[1]Faculty of Life Science and Technology, Center for Molecular Diagnosis in Yunnan Province, Kunming University of Science and Technology, Kunming 650500, China.
共同第一作者：
通讯作者：
推荐引用方式(GB/T 7714)：
Zhao Yue,Feng Yue,Zhang Yun-Mei,et al.Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy[J].BioMed research international.2015,2015:561819.doi:10.1155/2015/561819.
APA：
Zhao Yue,Feng Yue,Zhang Yun-Mei,Ding Xiao-Xue,Song Yu-Zhu...&Xia Xue-Shan.(2015).Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.BioMed research international,2015,
MLA：
Zhao Yue,et al."Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy".BioMed research international 2015.(2015):561819
