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タイトル
  • ja Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis
その他のタイトル
  • トリオターゲット遺伝子パネル解析を用いた乳幼児突然死症例における遺伝子変異の正確な解釈
作成者
    • 新宮, 啓太
アクセス権 open access
権利情報
  • © The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
内容注記
  • Other In sudden unexpected death in infancy cases, postmortem genetic analysis with next-generation sequencing potentially can extract candidate genes associated with sudden death. However, it is difficult to accurately interpret the clinically significant genetic variants. The study aim was to conduct trio analysis of cases of sudden unexpected death in infancy and their parents to more accurately interpret the clinically significant disease-associated gene variants associated with cause of death. From the TruSight One panel targeting 4813 genes we extracted candidate genetic variants of 66 arrhythmia-, 63 inherited metabolic disease-, 81 mitochondrial disease-, and 6 salt-losing tubulopathy-related genes in 7 cases and determined if they were de novo or parental-derived variants. Thirty-four parental-derived variants and no de novo variants were found, but none appeared to be related to the cause of death. Using trio analysis and an in silico algorithm to analyze all 4813 genes, we identified OBSCN of compound heterozygous and HCCS of hemizygous variants as new candidate genetic variants related to cause of death. Genetic analysis of these deceased infants and their living parents can provide more accurate interpretation of the clinically significant genetic variants than previously possible and help confirm the cause of death.
  • Other 長崎大学学位論文 学位記番号:博(医歯薬)甲第1419号 学位授与年月日:令和4年3月18日
  • Other Author: Keita Shingu, Takehiko Murase, Takuma Yamamoto, Yuki Abe, Yoriko Shinba, Masahide Mitsuma, Takahiro Umehara, Hiromi Yamashita & Kazuya Ikematsu
  • Other Citation: Scientific Reports, 11, art.no. 21532; 2021
  • Other identifier:Nagasaki University (長崎大学), 博士(医学) (2022-03-18)
出版者 Springer Nature
日付
    Created2022-05-18 , Issued2022-03-18
言語
  • eng
資源タイプ doctoral thesis
出版タイプ VoR
資源識別子 URI http://hdl.handle.net/10069/00041532
関連
  • http://hdl.handle.net/10069/00041422
  • isIdenticalTo DOI https://doi.org/10.1038/s41598-021-00962-8
収録誌情報
    • ISSN 2045-2322
      • Scientific Reports
      • 巻11 開始ページ21532
学位情報
  • 学位授与番号 甲医歯薬第1419号
  • 学位授与機関
    • 識別子名 kakenhi
    • 識別子 17301
    • 機関名称 Nagasaki University (長崎大学)
  • 学位授与年月日 2022-03-18
  • 学位名 博士(医学)
ファイル
コンテンツ更新日時 2022-12-01