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Copy number variations of SCN5A in Brugada syndrome.

Abstract：

BACKGROUND:Loss-of-function mutations in SCN5A are associated in ∼20% of Brugada syndrome (BrS) patients. Copy number variations (CNVs) have been shown to be associated with several inherited arrhythmia syndromes. OBJECTIVE:The purpose of this study was to investigate SCN5A CNVs among BrS probands. METHODS:The study cohort consisted of 151 BrS probands who were symptomatic or had a family history of BrS, sudden death, syncope, or arrhythmic diseases. We performed sequence analysis of SCN5A by the Sanger method. For detecting CNVs in SCN5A, we performed multiplex ligation-dependent probe amplification analysis of the 151 BrS probands. RESULTS:We identified pathogenic SCN5A mutations in 20 probands by the Sanger method. In 140 probands in whom multiplex ligation-dependent probe amplification was successfully performed, 4 probands were found to present different CNVs (deletion in 3 and duplication in 1). Three of them had fatal arrhythmia events; the remaining 1 was asymptomatic but had a family history. Mean age at diagnosis was 23 ± 14 years. All of the baseline 12-lead electrocardiograms showed PQ-interval prolongation. The characteristics of these 4 probands with CNVs were similar to those of the probands with mutations leading to premature truncation of the protein or missense mutations causing peak INa reduction >90%. CONCLUSION:We identified SCN5A CNVs in 2.9% of BrS probands who were symptomatic or had a family history.

journal_name

Heart Rhythm

journal_title

Heart rhythm

authors

Sonoda K,Ohno S,Ozawa J,Hayano M,Hattori T,Kobori A,Yahata M,Aburadani I,Watanabe S,Matsumoto Y,Makiyama T,Horie M

doi

10.1016/j.hrthm.2018.03.033

subject

Has Abstract

pub_date

2018-08-01 00:00:00

pages

1179-1188

issue

8

eissn

1547-5271

issn

1556-3871

pii

S1547-5271(18)30254-6

journal_volume

15

pub_type

杂志文章

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