Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family

Eur J Hum Genet. 2000 Feb;8(2):149-52. doi: 10.1038/sj.ejhg.5200428.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Anesthetics / adverse effects
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Italy
  • Male
  • Malignant Hyperthermia / etiology
  • Malignant Hyperthermia / genetics*
  • Mutation
  • Pedigree
  • Phenotype
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational
  • Ryanodine Receptor Calcium Release Channel / genetics*

Substances

  • Anesthetics
  • Ryanodine Receptor Calcium Release Channel
  • DNA