An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.

ABSTRACT: The Viking Health Study Shetland is a population-based research cohort of 2,122 volunteer participants with ancestry from the Shetland Isles in northern Scotland. The high kinship and detailed phenotype data support a range of approaches for associating rare genetic variants, enriched in this isolate population, with quantitative traits and diseases. As an exemplar, the c.1750G > A; p.Gly584Ser variant within the coding sequence of the KCNH2 gene implicated in Long QT Syndrome (LQTS), which occurred once in 500 whole genome sequences from this population, was investigated. Targeted sequencing of the KCNH2 gene in family members of the initial participant confirmed the presence of the sequence variant and identified two further members of the same family pedigree who shared the variant. Inv

SUBMITTER: Kerr SM 

PROVIDER: S-EPMC6662790 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature