Brugada综合征
先证者
遗传学
医学
基因
心房颤动
遗传力
表型
内科学
生物信息学
生物
突变
作者
Paolo Enrico Maltese,Elena Evgenevna Aldanova,Н А Крючкова,А В Аверьянов,Elena Manara,Stefano Paolacci,Alice Bruson,Riccardo Miotto,Maria Teresa Sartori,Giulia Guerri,Monia Zuntini,Giuseppe Marceddu,S Tezzele,K. Tadtaeva,А. А. Чернова,N. V. Aksyutina,S. Yu. Nikulinа,Savina Nodari,Matteo Bertelli
出处
期刊:PubMed
[National Institutes of Health]
日期:2019-09-01
卷期号:23 (17): 7582-7598
被引量:6
标识
DOI:10.26355/eurrev_201909_18880
摘要
OBJECTIVE: Familial atrial fibrillation (FAF), a not uncommon arrhythmia of the atrium, is characterized by heritability, early onset and absence of other heart defects. The molecular and genetic basis is still not completely clear and genetic diagnosis cannot be achieved in about 90% of patients. In this study, we present the results of genetic screening by next generation sequencing in affected Russian families. PATIENTS AND METHODS: Sixty subjects (18 probands and 42 relatives) with a clinical diagnosis of FAF were enrolled in the study. Since AF frequently associates with other cardiomyopathies, we included all genes that were known to be associated with these disorders at the time of our study. All probands were therefore systematically screened for 47 genes selected from the literature. RESULTS: Our study revealed that seven variants co-segregated with the clinical phenotype in seven families. Interestingly, four out of six genes and three out of seven variants have already been associated with Brugada syndrome in the literature. CONCLUSIONS: To our knowledge, this is the first report of association of the CACNA1C, CTNNA3, PKP2, ANK2 and SCN10A genes with FAF; it is also the first study in Russian families.
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