A Brugada syndrome proband with compound heterozygote SCN5A mutations identified from a Chinese family in Singapore

Conclusion
Our study is the first to report a SCN5A compound heterozygote in a Singaporean Chinese family. Only the proband carrying both mutations displayed the BrS phenotype, thus providing insights into the expression and penetrance of BrS in an Asian setting.

Source: Europace - June 12, 2016 Category: Cardiology Authors: Tan, B. Y., Yong, R. Y. Y., Barajas-Martinez, H., Dumaine, R., Chew, Y. X., Wasan, P. S., Ching, C. K., Ho, K. L., Gan, L. S. H., Morin, N., Chong, A. P. L., Yap, S. H., Neo, J. L., Yap, E. P. H., Moochhala, S., Chong, D. T. T., Chow, W., Seow, S. C., Hu, Tags: Channelopathies Source Type: research