Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy.
Dilated cardiomyopathy
Genetic mutation
Next generation sequencing
Journal
Acta Cardiologica Sinica
ISSN: 1011-6842
Titre abrégé: Acta Cardiol Sin
Pays: China (Republic : 1949- )
ID NLM: 101687085
Informations de publication
Date de publication:
Nov 2019
Nov 2019
Historique:
entrez:
28
12
2019
pubmed:
28
12
2019
medline:
28
12
2019
Statut:
ppublish
Résumé
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. 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 ( 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.
Sections du résumé
BACKGROUND
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
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 (
CONCLUSIONS
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.
Identifiants
pubmed: 31879508
doi: 10.6515/ACS.201911_35(6).20190402A
pmc: PMC6859096
doi:
Types de publication
Journal Article
Langues
eng
Pagination
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