Will the real long QT genes please stand up

Our understanding of the genetic landscape for inherited long QT syndrome (LQTS) has evolved since the first discovery of the molecular basis of LQT1-3 in 1995 [1 –3]. With rapid advances in technology, particularly large-scale next generation sequencing, there has been haste to discover the “next” LQTS gene. This has led to a rapid expansion of the list of so-called LQTS genes to at least 16 genes, many without any strong functional or linkage data to support pathogenicity [4]. As population datasets have grown to the current size [more than 138,000 exomes and genomes in the gnomAD database (gnomAD.broadinstitute.org) alone], the fact that many of these less-established genes are harbouring considerable background genetic variation, has become th e harsh reality.
Source: Trends in Cardiovascular Medicine - Category: Cardiology Authors: Source Type: research