Using exome data to identify malignant hyperthermia susceptibility mutations.

ABSTRACT:

Background

Malignant hyperthermia susceptibility (MHS) is a life-threatening, inherited disorder of muscle calcium metabolism, triggered by anesthetics and depolarizing muscle relaxants. An unselected cohort was screened for MHS mutations using exome sequencing. The aim of this study was to pilot a strategy for the RYR1 and CACNA1S genes.

Methods

Exome sequencing was performed on 870 volunteers not ascertained for MHS. Variants in RYR1 and CACNA1S were annotated using an algorithm that filtered results based on mutation type, frequency, and information in mutation databases. Variants were scored on a six-point pathogenicity scale. Medical histories and pedigrees were reviewed for malignant hyperthermia and related disorders.

Results

The authors identified 70 RYR1 and

SUBMITTER: Gonsalves SG 

PROVIDER: S-EPMC4077354 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature