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

Full 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.

Author information

Author/s: Chen, Po-Liang (PL); Chang, Yao-Wen (YW); Chen, Chun-Yu (CY); Hsiang, Yung-Chih (YC); Day, Yuan-Ji (YJ);

Affiliation: Department of Anesthesiology, Chiayi Chang Gung Memorial Hospital, Chiayi, Taiwan, ROC.

Journal and publication information

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal: Anesthesia and analgesia (Anesth Analg), published in United States. (Language: eng)

Reference: 2009-Oct; vol 109 (issue 4) : pp 1273-7

Dates: Created 2009/09/18; Completed 2009/10/01;

PMID: 19762757, status: MEDLINE (last retrieval date: 10/1/2009, IMS Date: )

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