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Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia
- Source :
- Human mutation. 27(8)
- Publication Year :
- 2006
-
Abstract
- Malignant hyperthermia (MH) is a dominantly inherited pharmacogenetic condition that manifests as a life-threatening hypermetabolic reaction when a susceptible individual is exposed to common volatile anesthetics and depolarizing muscle relaxants. Although MH appears to be genetically heterogeneous, RYR1 is the main candidate for MH susceptibility. However, since molecular analysis is generally limited to exons where mutations are more frequently detected, these are routinely found only in 30-50% of susceptible subjects. In this study the entire RYR1 coding region was analyzed in a cohort of 50 Italian MH susceptible (MHS) subjects. Thirty-one mutations, 16 of which were novel, were found in 43 individuals with a mutation detection rate of 86%, the highest reported for RYR1 in MH so far. These data provide clear evidence that mutations in the RYR1 gene are the predominant cause of MH.
- Subjects :
- Male
DNA Mutational Analysis
Mutation, Missense
Biology
medicine.disease_cause
Cohort Studies
Exon
Gene Frequency
medicine
Coding region
Missense mutation
Humans
genetics
Genetic Predisposition to Disease
Genetic Testing
Allele frequency
Genetics (clinical)
RYR1
Genetics
Mutation
Genetic heterogeneity
Malignant hyperthermia
Ryanodine Receptor Calcium Release Channel
Cohort Studies, DNA Mutational Analysis, Exons, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Testing, Humans, Male, Malignant Hyperthermia
diagnosis/genetics, Mutation
Missense, Ryanodine Receptor Calcium Release Channel
Exons
musculoskeletal system
medicine.disease
Female
Missense
Malignant Hyperthermia
diagnosis/genetics
Subjects
Details
- ISSN :
- 10981004
- Volume :
- 27
- Issue :
- 8
- Database :
- OpenAIRE
- Journal :
- Human mutation
- Accession number :
- edsair.doi.dedup.....ee40d3a31894844721c171620fa7540d