A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.

ABSTRACT:

Background

Malignant hyperthermia (MH) susceptibility is an inherited condition, diagnosed either by the presence of a pathogenic genetic variant or by in vitro caffeine-halothane contracture testing. Through a multi-dimensional approach, we describe the implications of discordance between genetic and in vitro test results in a patient with a family history of possible MH.

Methods

The patient, whose brother had a possible MH reaction, underwent the caffeine-halothane contracture test (CHCT) according to the North American MH Group protocol. Screening of the complete RYR1 and CACNA1S transcripts was done using Sanger sequencing. Additional functional analyses included skinned myofibre calcium-induced calcium release sensitivity, calcium signalling assays in cultured myotubes,

SUBMITTER: Ibarra Moreno CA 

PROVIDER: S-EPMC7729844 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature