Genetic epidemiology of malignant hyperthermia in the UK.

ABSTRACT:

Background

Gaps in our understanding of genetic susceptibility to malignant hyperthermia (MH) limit the application and interpretation of genetic diagnosis of the condition. Our aim was to define the prevalence and role of variants in the three genes implicated in MH susceptibility in the largest comprehensively phenotyped MH cohort worldwide.

Methods

We initially included one individual from each positive family tested in the UK MH Unit since 1971 to detect variants in RYR1, CACNA1S, or STAC3. Screening for genetic variants has been ongoing since 1991 and has involved a range of techniques, most recently next generation sequencing. We assessed the pathogenicity of variants using standard guidelines, including family segregation studies. The prevalence of recurrent variants

SUBMITTER: Miller DM 

PROVIDER: S-EPMC6208294 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature