Whole-exome sequencing identifies a Novel SCN5A mutation (C335R) in a Chinese family with arrhythmia.

Abstract:

BACKGROUND:SCN5A encodes sodium-channel α-subunit Nav1.5. The mutations of SCN5A can lead to hereditary cardiac arrhythmias such as the long-QT syndrome type 3 and Brugada syndrome. Here we sought to identify novel mutations in a family with arrhythmia. METHODS:Genomic DNA was isolated from blood of the proband, who was diagnosed with atrial flutter. Illumina Hiseq 2000 whole-exome sequencing was performed and an arrhythmia-related gene-filtering strategy was used to analyse the pathogenic genes. Sanger sequencing was applied to verify the mutation co-segregated in the family.Results and conclusionsA novel missense mutation in SCN5A (C335R) was identified, and this mutation co-segregated within the affected family members. This missense mutation was predicted to result in amplitude reduction in peak Na+ current, further leading to channel protein dysfunction. Our study expands the spectrum of SCN5A mutations and contributes to genetic counselling of families with arrhythmia.

journal_name

Cardiol Young

journal_title

Cardiology in the young

authors

Huang H,Ding DB,Fan LL,Jin JY,Li JJ,Guo S,Chen YQ,Xiang R

doi

10.1017/S1047951117002980

subject

Has Abstract

pub_date

2018-05-01 00:00:00

pages

688-691

issue

5

eissn

1047-9511

issn

1467-1107

pii

S1047951117002980

journal_volume

28

pub_type

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