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

Authors :: Chen PL
Chang YW
Chen CY
Hsiang YC
Day YJ
Source :: Anesthesia and analgesia [Anesth Analg] 2009 Oct; Vol. 109 (4), pp. 1273-7.
Publication Year :: 2009
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.<br />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.<br />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.<br />Conclusions: Three novel ryanodine receptor isoform 1 variants located either near or within the central domain might predispose carriers to MH.

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

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