Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis

• Material Type: 博士論文
• ISSN: 2045-2322
• Title: Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis
• Volume: 11
• Author/Editor: 新宮, 啓太
• Author Heading: 新宮, 啓太
• Publication, Distribution, etc.: Springer Nature
• Publication Date: 2022-03-18
• Publication Date (W3CDTF): 2022-03-18
• Alternative Title: 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
• Periodical title: Scientific Reports
• Degree grantor/type: Nagasaki University (長崎大学)
• Date Granted: 2022-03-18
• Date Granted (W3CDTF): 2022-03-18
• Dissertation Number: 甲医歯薬第1419号
• Degree Type: 博士(医学)
• Conferring No. (Dissertation): 甲医歯薬第1419号
• Text Language Code: eng
• Target Audience: 一般
• Note (General): 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.; 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; Author: Keita Shingu, Takehiko Murase, Takuma Yamamoto, Yuki Abe, Yoriko Shinba, Masahide Mitsuma, Takahiro Umehara, Hiromi Yamashita & Kazuya Ikematsu; Citation: Scientific Reports, 11, art.no. 21532; 2021; identifier:Nagasaki University (長崎大学), 博士(医学) (2022-03-18); http://hdl.handle.net/10069/00041422
• DOI: info:doi/10.1038/s41598-021-00962-8; https://doi.org/info:doi/10.1038/s41598-021-00962-8
• Persistent ID (NDL): info:ndljp/pid/12296822; https://dl.ndl.go.jp/pid/12296822
• Collection: 障害者向け資料
• Collection (Materials For Handicapped People:1): テキストデータ
• Collection (particular): 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文; https://dl.ndl.go.jp/collections/A00014
• Acquisition Basis: 博士論文（自動収集）
• Date Accepted (W3CDTF): 2022-06-05T18:01:14+09:00
• Date Created (W3CDTF): 2022-05-18
• Format (IMT): PDF
• Access Restrictions: 国立国会図書館内限定公開
• Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
• Availability of remote photoduplication service: 可
• Related Material (URI): http://hdl.handle.net/10069/00041422
• Periodical Title (URI): http://hdl.handle.net/10069/00041532
• Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp