A rare non-coding enhancer variant in SCN5A contributes to the high prevalence of Brugada syndrome in Thailand
Roddy Walsh, John Mauleekoonphairoj, Isabella Mengarelli, Arie O. Verkerk, Fernanda M. Bosada, Karel van Duijvenboden, Yong Poovorawan, Wanwarang Wongcharoen, Boosamas Sutjaporn, Pharawee Wandee, Nitinan Chimparlee, Ronpichai Chokesuwattanaskul, Kornkiat Vongpaisarnsin, Piyawan Dangkao, Cheng‐I Wu, , Apichai Khongphatthanayothin
The paper identifies a rare non-coding enhancer variant in SCN5A associated with Brugada syndrome in Thailand, showing it disrupts a transcription factor binding site and reduces sodium current.
Circulation · Oct 11, 2024Peer-reviewedGenetic & Genomic Medicine