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Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.
Scientific Reports ( IF 3.8 ) Pub Date : 2015-Jun-19 , DOI: 10.1038/srep11411
Xuxia Liu , Tengyong Jiang , Chunmei Piao , Xiaoyan Li , Jun Guo , Shuai Zheng , Xiaoping Zhang , Tao Cai , Jie Du
Scientific Reports ( IF 3.8 ) Pub Date : 2015-Jun-19 , DOI: 10.1038/srep11411
Xuxia Liu , Tengyong Jiang , Chunmei Piao , Xiaoyan Li , Jun Guo , Shuai Zheng , Xiaoping Zhang , Tao Cai , Jie Du
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Hypertrophic cardiomyopathy (HCM) is a major cause of sudden cardiac death. Mutations in the MYBPC3 gene represent the cause of HCM in ~35% of patients with HCM. However, genetic testing in clinic setting has been limited due to the cost and relatively time-consuming by Sanger sequencing. Here, we developed a HCM Molecular Diagnostic Kit enabling ultra-low-cost targeted gene resequencing in a large cohort and investigated the mutation spectrum of MYBPC3. In a cohort of 114 patients with HCM, a total of 20 different mutations (8 novel and 12 known mutations) of MYBPC3 were identified from 25 patients (21.9%). We demonstrated that the power of targeted resequencing in a cohort of HCM patients, and found that MYBPC3 is a common HCM-causing gene in Chinese patients. Phenotype-genotype analyses showed that the patients with double mutations (n = 2) or premature termination codon mutations (n = 12) showed more severe manifestations, compared with patients with missense mutations (n = 11). Particularly, we identified a recurrent truncation mutation (p.Y842X) in four unrelated cases (4/25, 16%), who showed severe phenotypes, and suggest that the p.Y842X is a frequent mutation in Chinese HCM patients with severe phenotypes.
更新日期：2015-06-21
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