Dataset Information

Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy.

ABSTRACT:

Background

Approximately one-third of cases of dilated cardiomyopathy (DCM) are caused by genetic mutations. With new sequencing technologies, numerous variants have been associated with this inherited cardiomyopathy, however the prevalence and genotype-phenotype correlations in different ethnic cohorts remain unclear. This study aimed to investigate the variants in Chinese DCM patients and correlate them with clinical presentations and prognosis.

Methods and results

From September 2013 to December 2016, 70 index patients underwent DNA sequencing for 12 common disease-causing genes with next generation sequencing. Using a bioinformatics filtering process, 12 rare truncating variants (7 nonsense variants, 4 frameshift variants, and 1 splice site variant) and 29 rare missense variants were identified. Of these, 3 patients were double heterozygotes and 10 patients were compound heterozygotes. Overall, 47.1% (33/70) of the index patients had the seputatively pathogenic variants. The majority (33/41, 80.4%) of these variants were located in titin (TTN). More than 80% of the TTN variants (27/33, 81.8%) were distributed in the A band region of the sarcomere. Patients carrying these variants did not have a different phenotype in disease severity, clinical outcome and reversibility of ventricular function compared with non-carriers.

Conclusions

Several new rare variants were identified in a Chinese population in this study, indicating that there are ethnic differences in genetic mutations in DCM patients. TTN remains the major disease-causing gene. Our results could be a reference for future genetic tests in Chinese populations. No specific genotype-phenotype correlations were found, however a prospective large cohort study may be needed to confirm our findings.

SUBMITTER: Yeh JK

PROVIDER: S-EPMC6859096 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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Publications

Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy.

Yeh Jih-Kai JK Liu Wei-Hsiu WH Wang Chao-Yung CY Lu Jang-Jih JJ Chen Chien-Hsiun CH Wu-Chou Yah-Huei YH Chang Pi-Yueh PY Chang Shih-Cheng SC Yang Chia-Hung CH Tsai Ming-Lung ML Ho Ming-Yun MY Hsieh I-Chang IC Wen Ming-Shien MS

Acta Cardiologica Sinica 20191101 6

<h4>Background</h4>Approximately one-third of cases of dilated cardiomyopathy (DCM) are caused by genetic mutations. With new sequencing technologies, numerous variants have been associated with this inherited cardiomyopathy, however the prevalence and genotype-phenotype correlations in different ethnic cohorts remain unclear. This study aimed to investigate the variants in Chinese DCM patients and correlate them with clinical presentations and prognosis.<h4>Methods and results</h4>From Septembe ...[more]

PMID: 31879508

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Dataset Information

Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy.

Background

Methods and results

Conclusions

Publications

Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy.

Similar Datasets

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