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A case of discordance between genotype and phenotype in a malignant hyperthermia family
- Publication Year :
- 1999
- Publisher :
- NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW -S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234, 1999.
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Abstract
- Malignant 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.
- Subjects :
- Male
Genotype
Biology
medicine.disease_cause
Genotype-phenotype distinction
Caffeine
Genetics
medicine
Humans
Family
Muscle, Skeletal
Gene
Genetics (clinical)
RYR1
Mutation
Gene map
Malignant hyperthermia
Ryanodine Receptor Calcium Release Channel
musculoskeletal system
medicine.disease
Phenotype
Pedigree
Cancer research
Female
Disease Susceptibility
Halothane
Malignant Hyperthermia
Chromosomes, Human, Pair 19
Muscle Contraction
Subjects
Details
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....a0f29efa307d3fa5f0f80f3044706192