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GENERAL ARTICLE

Novel Variants Near the Central Domain of RYR1 in Two Malignant Hyperthermia-Susceptible Families from Taiwan

Po-Liang Chen, MD^*, Yao-Wen Chang, MS, Chun-Yu Chen, MD, Yung-Chih Hsiang, MS, and Yuan-Ji Day, MD, PhD

From the *Department of Anesthesiology, Chiayi Chang Gung Memorial Hospital, Chiayi, Taiwan, ROC; Department of Medical Research, Transgenic & Molecular Immunogenetics Laboratory, Chang Gung Memorial Hospital; Department of Anesthesiology, Linko Chang Gung Memorial Hospital; and Department of Medicine, Graduate Institute of Clinical Medical Science, Chang Gung University, Taoyuan, Taiwan, ROC.

Address correspondence and reprint requests to Yuan-Ji Day, MD, PhD, Department of Anesthesiology, Transgenic & Molecular Immunogenetics Laboratory, Chang Gung Memorial Hospital, No. 5, Fushin St., 333 Gueishang Taoyuan, Taiwan, ROC. Address e-mail to yd3j.uva{at}msa.hinet.net.

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.