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  1. NTU Scholars
  2. 醫學院
  3. 基因體暨蛋白體醫學研究所
Please use this identifier to cite or link to this item: https://scholars.lib.ntu.edu.tw/handle/123456789/569501
Title: Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia
Authors: HUEI-MING YEH 
Liao M.-H.
Chu C.-L.
Lin Y.-H.
WEI-ZEN SUN 
LING-PING LAI 
PEI-LUNG CHEN 
Issue Date: 2021
Publisher: Elsevier B.V.
Journal Volume: 120
Journal Issue: 2
Start page/Pages: 883-892
Source: Journal of the Formosan Medical Association
Abstract: 
Background/purpose: Malignant hyperthermia (MH) is a life-threatening pharmacogenetic disease with only two known causative genes, RYR1 and CACNA1S. Both are huge genes containing numerous exons, and they reportedly only account for 50–70% of known MH patients. Next-generation sequencing (NGS) technology and bioinformatics could help delineate the genetic diagnosis of MH and several MH-like clinical presentations. Methods: We established a capture-based targeted NGS sequencing framework to examine the whole genomic regions of RYR1, CACNA1S and the 16.6 Kb mitochondrial genome, as well as 12 other genes related to excitation-contraction coupling and/or skeletal muscle calcium homeostasis. We applied bioinformatics analyses to the variants identified in this study and also to the 48 documented RYR1 pathogenic variants. Results: The causative variants were identified in seven of the eight (87.5%) MH families, but in none of the 10 individuals classified as either normal controls (N = 2) or patients displaying MH-like clinical features later found to be caused by other etiologies (N = 8). We showed that RYR1 c.1565A>G (p.Tyr522Cys)(rs118192162) could be a genetic hot spot in the Taiwanese population. Bioinformatics analyses demonstrated low population frequencies and predicted damaging effects from all known pathogenic RYR1 variants. We estimated that more than one in 1149 individuals worldwide carry MH pathogenic variants at RYR1. Conclusion: NGS and bioinformatics are sensitive and specific tools to examine RYR1 and CACNA1S for the genetic diagnosis of MH. Pathogenic variants in RYR1 can be found in the majority of MH patients in Taiwan. ? 2020
URI: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85090697917&doi=10.1016%2fj.jfma.2020.08.028&partnerID=40&md5=00dc7a8b9c02181038976e3ff22aaedf
https://scholars.lib.ntu.edu.tw/handle/123456789/569501
ISSN: 0929-6646
DOI: 10.1016/j.jfma.2020.08.028
SDG/Keyword: calcium channel L type; calcium channel voltage dependent L type, alpha 1s subunit; creatine kinase; dantrolene; muscle enzyme; myoglobin; ryanodine receptor 1; unclassified drug; ryanodine receptor; acidosis; adolescent; adult; aged; alkalosis; anesthesiology; aortic reconstruction; appendectomy; appendix perforation; Article; autosomal dominant inheritance; bioinformatics; bone tumor; brain damage; calcium homeostasis; cancer surgery; child; clinical article; clinical feature; colon resection; controlled study; creatine kinase blood level; dissecting aortic aneurysm; enzyme blood level; excitation contraction coupling; exon; false positive result; family history; female; fever; gene frequency; genetic screening; genetic variability; heart ventricle arrhythmia; high throughput sequencing; hip surgery; human; hyperkalemia; kidney failure; laparoscopic cholecystectomy; liver resection; male; malignant hyperthermia; masseter spasm; medical history; mitochondrial genome; muscle rigidity; muscle spasm; onset age; osteogenesis imperfecta; paralysis; pterygium; skeletal muscle; strabismus; tachycardia; Taiwanese; temperature; tibia fracture; biology; genetics; high throughput sequencing; malignant hyperthermia; mutation; Taiwan; Computational Biology; High-Throughput Nucleotide Sequencing; Humans; Malignant Hyperthermia; Mutation; Ryanodine Receptor Calcium Release Channel; Taiwan
[SDGs]SDG3
Appears in Collections:基因體暨蛋白體醫學研究所

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臺大位居世界頂尖大學之列,為永久珍藏及向國際展現本校豐碩的研究成果及學術能量,圖書館整合機構典藏(NTUR)與學術庫(AH)不同功能平台,成為臺大學術典藏NTU scholars。期能整合研究能量、促進交流合作、保存學術產出、推廣研究成果。

To permanently archive and promote researcher profiles and scholarly works, Library integrates the services of “NTU Repository” with “Academic Hub” to form NTU Scholars.

總館學科館員 (Main Library)
醫學圖書館學科館員 (Medical Library)
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開放取用是從使用者角度提升資訊取用性的社會運動,應用在學術研究上是透過將研究著作公開供使用者自由取閱,以促進學術傳播及因應期刊訂購費用逐年攀升。同時可加速研究發展、提升研究影響力,NTU Scholars即為本校的開放取用典藏(OA Archive)平台。(點選深入了解OA)

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