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

Po Liang Chen; Yao Wen Chang; Chun Yu Chen; Yung Chih Hsiang; Yuan Ji Day

doi:10.1213/ane.0b013e3181ae94c7

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

Po Liang Chen, Yao Wen Chang, Chun Yu Chen, Yung Chih Hsiang, Yuan Ji Day^*

^*Corresponding author for this work

Graduate Institute of Clinical Medical Sciences

Chang Gung Memorial Hospital

Research output: Contribution to journal › Journal Article › peer-review

3 Scopus citations

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.

Original language	English
Pages (from-to)	1273-1277
Number of pages	5
Journal	Anesthesia and Analgesia
Volume	109
Issue number	4
DOIs	https://doi.org/10.1213/ane.0b013e3181ae94c7
State	Published - 10 2009

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title = "Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan",

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 = "Chen, {Po Liang} and Chang, {Yao Wen} and Chen, {Chun Yu} and Hsiang, {Yung Chih} and Day, {Yuan Ji}",

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doi = "10.1213/ane.0b013e3181ae94c7",

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AU - Chen, Po Liang

AU - Chang, Yao Wen

AU - Chen, Chun Yu

AU - Hsiang, Yung Chih

AU - Day, Yuan Ji

PY - 2009/10

Y1 - 2009/10

N2 - 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.

AB - 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.

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JO - Anesthesia and Analgesia

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

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