Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan.
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.
Chen
Po-Liang
PL
Department of Anesthesiology, Chiayi Chang Gung Memorial Hospital, Chiayi, Taiwan, ROC.
Chang
Yao-Wen
YW
Chen
Chun-Yu
CY
Hsiang
Yung-Chih
YC
Day
Yuan-Ji
YJ
D000368:Aged; D000369:Aged, 80 and over; D000758:Anesthesia / Q000009:adverse effects*; D044466:Asian People / Q000235:genetics; D005091:Exons; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000208:ethnology / Q000209:etiology* / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D018570:Risk Assessment; D012307:Risk Factors; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D013624:Taiwan
D019837:Ryanodine Receptor Calcium Release Channel