Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan

Anesth Analg. 2009 Oct;109(4):1273-7. doi: 10.1213/ane.0b013e3181ae94c7.

Abstract

Background: Our primary objective was to detect malignant hyperthermia (MH)-susceptible persons and thereby prevent MH episodes. We identified variants in the ryanodine receptor isoform 1 using molecular pedigree analysis.

Methods: Nineteen exons covering major hotspots were chosen for the primary screening by polymerase chain reaction, denaturing high performance liquid chromatography, and confirmed by direct sequencing.

Results: Three novel variants involving amino acid changes were identified in two unrelated families as Met2698Arg, Glu2724Lys in exon 51 and Leu2785Val in exon 53.

Conclusions: Three novel ryanodine receptor isoform 1 variants located either near or within the central domain might predispose carriers to MH.

Publication types

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

MeSH terms

  • Aged
  • Aged, 80 and over
  • Anesthesia / adverse effects*
  • Asian People / genetics
  • Exons
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Malignant Hyperthermia / ethnology
  • Malignant Hyperthermia / etiology*
  • Malignant Hyperthermia / genetics
  • Mutation*
  • Pedigree
  • Phenotype
  • Risk Assessment
  • Risk Factors
  • Ryanodine Receptor Calcium Release Channel / genetics*
  • Taiwan

Substances

  • Ryanodine Receptor Calcium Release Channel