title: Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family.
abstract: Malignant hyperthermia (MH) is an inherited autosomal dominant pharmacogenetic disorder and is one of the main causes of death subsequent to anaesthesia. Around 50% of affected families are linked to the ryanodine receptor (RYR1) gene. To date, 19 mutations have been identified in the coding region of this gene and appear to be associated with the MH-susceptible phenotype. Here we report the identification by two independent methods of a novel mutation associated with the MH-susceptible phenotype in the RYR1 gene: the 6488G-->C transversion, resulting in the replacement of the Arg2163 with a proline residue.
authors.affiliation: Dipartimento di Biochimica e Biotecnologie Mediche, Università Federico II di Napoli and CEINGE Biotecnologie Avanzate, Naples, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Fortunato
authors.forename: R
authors.initials: R
authors.lastname: Berruti
authors.forename: V
authors.initials: V
authors.lastname: Brancadoro
authors.forename: M
authors.initials: M
authors.lastname: Fattore
authors.forename: F
authors.initials: F
authors.lastname: Salvatore
authors.forename: A
authors.initials: A
authors.lastname: Carsana
mesh_terms: D019943:Amino Acid Substitution; D000777:Anesthetics / Q000009:adverse effects; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007558:Italy; D008297:Male; D008305:Malignant Hyperthermia / Q000209:etiology / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
chemical_list: D000777:Anesthetics; D019837:Ryanodine Receptor Calcium Release Channel; D004247:DNA