Whole-exome sequencing identify a new mutation of MYH7 in a Chinese family with left ventricular noncompaction.
Whole-exome sequencing identify a new mutation of MYH7 in a Chinese family with left ventricular noncompaction.
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DOI：
10.1016/j.gene.2014.12.061
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发表时间：
2015-03
期刊：
影响因子：
3.5
通讯作者：
Jing Yang;M. Zhu;Yao Wang;Xiaofeng Hou;Hong-ping Wu;Daowu Wang;Hongbing Shen;Zhibin Hu;J. Zou
中科院分区：
文献类型：
--
作者：
Jing Yang;M. Zhu;Yao Wang;Xiaofeng Hou;Hong-ping Wu;Daowu Wang;Hongbing Shen;Zhibin Hu;J. Zou
BackgroundLeft ventricular noncompaction (LVNC) is a genetic cardiomyopathy results from the failure of myocardial development during embryogenesis. Previous reports show that defects in TAZ,SCN5A, TPM1,YWHAE, MYH7,ACTC1andTNNT2are associated with LVNC. Sequencing of individuals using family-based design is a powerful approach for hereditary disease. In this study, we used whole-exome sequencing to screen potentially novel causal mutations in a Chinese Han family with LVNC.MethodsDNA from 3 individuals belonging to the same family was extracted and sequenced based on standard whole-exome sequencing protocol. The exome sequence data was analyzed using BWA, PICARD and Genome Analysis Toolkit (GATK v2.8). Non-silent single nucleotide variants (SNVs) were further selected if they exist in both LVNC patients and not in the health control. A web-based software Snv Prioritization via the INtegration of Genomic data (SPRING), was used to prioritize the causal SNV by calculating a q-value which indicates the statistical significance that a variant is causative for a query disease.ResultsFrom the LVNC family in which the mother and son were affected, a novel single nucleotide variant c.C1492G in exon 15 ofMYH7was identified probably to be the causal SNV of the family withP-value of 3.45E− 05 and q-value of 4.65E− 03 by SPRING. The SNV was predicted as deleterious in SIFT, PolyPhe2 and MutatioTaster database. Another 12 SNVs were also identified withP-value less than 0.05 by SPRING.ConclusionsA novel genetic variant in the coding regions ofMYH7gene was identified in a Chinese LVNC-family. The results support the previous evidence thatMYH7is a pathogenic gene for LVNC.
