Article
Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 2 Nov 2023
Novelli Valeria, Faultless Trent, Cerrone Marina, Care Melanie, Manzoni Martina, Bober Sara L, Adler Arnon, De-Giorgio Fabio, Spears Danna, Gollob Michael H
Abstract excerpt
AIMS: Rare variants in the KCNQ1 gene are found in the healthy population to a much greater extent than the prevalence of Long QT Syndrome type 1 (LQTS1). This observation creates challenges in the interpretation of KCNQ1 rare variants that may be identified as secondary findings in whole exome sequencing.This study sought to identify missense variants within sub-domains of the KCNQ1-encoded Kv7.1 potassium...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.