Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families

Anaesthesia and Intensive Care
R L GilliesB M Hockey

Abstract

Defects in the genes coding for the skeletal muscle ryanodine receptor (RYR1) and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) have been identified as causative for malignant hyperthermia (MH). Sixty-two MH susceptible individuals presenting to the same diagnostic centre had copy deoxyribonucleic acid, derived from muscle ribonucleic acid, sequenced to identify variants with the potential to be responsible for the MH phenotype in both RYR1 and CACNA1S. These genetic findings were combined with clinical episode details and in vitro contracture test results to improve our understanding of the Australian MH cohort. Twelve novel variants were identified in RYR1 and six in CACNA1S. Known RYR1 causative mutations were identified in six persons and novel variants in RYR1 and CACNA1S in a further 17 persons. Trends indicated higher mutation identification in those with more definitive clinical episodes and stronger in vitro contracture test responses.

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Citations

Dec 8, 2017·American Journal of Physiology. Cell Physiology·Claudio F PerezMarco G Casarotto
Dec 19, 2019·Pharmacogenetics and Genomics·Katrin SangkuhlTeri E Klein
Apr 5, 2017·Proceedings of the National Academy of Sciences of the United States of America·Rocky H ChoiBradley S Launikonis
Sep 20, 2017·Anesthesiology·Marilyn Green Larach
Jul 25, 2018·Proceedings of the National Academy of Sciences of the United States of America·Tanya R CullyBradley S Launikonis
Sep 14, 2017·Anesthesiology·Sheila RiaziPhilip M Hopkins
Nov 25, 2016·Experimental and Therapeutic Medicine·Tao PanYang Li

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