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Eur. J. Hum. Genet. · May 1999
A case of discordance between genotype and phenotype in a malignant hyperthermia family.
- G Fortunato, A Carsana, N Tinto, V Brancadoro, G Canfora, and F Salvatore.
- Dipartimento di Biochimica e Biotecnologie Mediche, Università Federico II di Napoli, Italy.
- Eur. J. Hum. Genet. 1999 May 1;7(4):415-20.
AbstractMalignant hyperthermia (MH) is an inherited autosomal dominant pharmacogenetic disorder and is the major cause of anaesthesia-induced death. Malignant hyperthermia susceptibility is usually diagnosed by the in vitro contracture test (IVCT) performed on fresh muscle biopsies exposed to caffeine and halothane, respectively. Around 50% of affected families are linked to the ryanodine receptor (RYR1) gene. The human RYR1 gene maps to chromosome 19q13.1 and encodes a protein that associates as a homotetramer and acts as a calcium-release channel from the sarcoplasmic reticulum. To date, 17 mutations have been identified in the coding region of the RYR1 gene and appear to be associated to the MH-susceptible phenotype. Here we describe a rare case of discordance between genotype (characterised by the presence of the Arg614Cys mutation in the RYR1 gene) and MH-normal typed phenotype. Although the IVCT remains a very reliable procedure for the assessment of MH status, genetic data can provide in some cases an additional aid to clinical diagnosis.
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