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

Published online by Cambridge University Press:  06 February 2018

Hao Huang
Affiliation:
School of Life Sciences, Central South University, Changsha, China
Dong-Bo Ding
Affiliation:
School of Life Sciences, Central South University, Changsha, China
Liang-Liang Fan
Affiliation:
School of Life Sciences, Central South University, Changsha, China
Jie-Yuan Jin
Affiliation:
School of Life Sciences, Central South University, Changsha, China
Jing-Jing Li
Affiliation:
School of Life Sciences, Central South University, Changsha, China
Shuai Guo
Affiliation:
School of Life Sciences, Central South University, Changsha, China
Ya-qin Chen
Affiliation:
Department of Cardiology, The Second Xiangya Hospital of Central South University, Changsha, China
Rong Xiang
Affiliation:
School of Life Sciences, Central South University, Changsha, China Department of Cardiology, The Second Xiangya Hospital of Central South University, Changsha, China
Corresponding
E-mail address:

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 conclusions

A 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.

Type
Original Articles
Copyright
© Cambridge University Press 2018 

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Footnotes

*

Hao Huang and Dong-bo Ding contributed equally to this work.

References

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Huang et al. supplementary material

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