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January 1, 1994Human Molecular Genetics

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies

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Population

Unrelated patients susceptible to malignant hyperthermia (MHS)

Design

Other

Authors

KQKathleen A. QuaneUniversity College CorkKKKatherine E. KeatingResearchWorks (United States)BMBernadette M. ManningDublin City University

Discussion

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Implication

May aid MHS diagnosis in Caucasians; leaves open functional validation and broader clinical utility testing.

Key Points

  • To determine whether a prevalent RYR1 mutation exists that accounts for a substantial proportion of malignant hyperthermia susceptibility cases.
  • Screened the RYR1 gene for novel mutations in unrelated malignant hyperthermia susceptible patients using the single-stranded conformation polymorphism method.
  • Identified a novel Gly341Arg missense mutation within the RYR1 gene.
  • Demonstrated that the Gly341Arg mutation accounts for approximately 10% of malignant hyperthermia susceptible cases in Caucasian individuals.

Structured PICO

P
Population
Unrelated patients susceptible to malignant hyperthermia (MHS)
I
Intervention
Investigation of the RYR1 gene using single-stranded conformation polymorphism method
O
Outcome
Presence of new mutations in the RYR1 genesurrogate

The discovery of the Gly341Arg mutation in the RYR1 gene, accounting for ~10% of Caucasian MHS cases, has important implications for the diagnosis and understanding of heterogeneity in malignant hyperthermia.

Cite This Study

Quane et al. (1994) studied this question.

synapsesocial.com/papers/6a703dfce36a167817e1fee2https://doi.org/10.1093/hmg/3.3.471
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees1994 · 81 citations
  2. 2Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families2010 · 45 citations
  3. 3Screening of the Entire Ryanodine Receptor Type 1 Coding Region for Sequence Variants Associated with Malignant Hyperthermia Susceptibility in the North American Population2005 · 149 citations
  4. 4Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia1998 · 3 citations
  5. 5Ryanodine Receptor Type 1 Gene Variants in the Malignant Hyperthermia-Susceptible Population of the United States2013 · 77 citations