Open AccessA Brugada syndrome proband with compound heterozygoteSCN5Amutations identified from a Chinese family in Singapore
Author(s) -
Boon Yew Tan,
Rita Y.Y. Yong,
Héctor Barajas-Martínez,
Robert Dumaine,
Ying Xia Chew,
Pavandip Singh Wasan,
Chi Keong Ching,
Kah Leng Ho,
Linda Seo Hwee Gan,
Nathalie Morin,
Alicia Poh Leng Chong,
Shiao Hui Yap,
Jia Ling Neo,
P. H. Yap,
Shabbir Moochhala,
Daniel Chong,
Weien Chow,
Swee Chong Seow,
Dan Hu,
Mahesh Uttamchandani,
Wee Siong Teo
Publication year - 2015
Publication title -
ep europace
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.119
H-Index - 102
eISSN - 1532-2092
pISSN - 1099-5129
DOI - 10.1093/europace/euv058
Subject(s) - brugada syndrome , medicine , proband , compound heterozygosity , heterozygote advantage , ajmaline , chinese family , genetics , mutation , genotype , gene , biology
Brugada syndrome (BrS) is a rare heritable ventricular arrhythmia. Genetic defects in SCN5A, a gene that encodes the α-subunit of the sodium ion channel Nav1.5, are present in 15-30% of BrS cases. SCN5A remains by far, the highest yielding gene for BrS. We studied a young male who presented with syncope at age 11. This proband was screened for possible disease causing SCN5A mutations. The inheritance pattern was also examined amongst his first-degree family members.
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