PRIMPOL変異と複数の遺伝子バリアントが表現型に関与すると考えられた慢性進行性外眼筋麻痺症候を呈した家系

• Material Type: 博士論文
• Title: PRIMPOL変異と複数の遺伝子バリアントが表現型に関与すると考えられた慢性進行性外眼筋麻痺症候を呈した家系
• Volume: 157
• Author/Editor: 笠毛, 渓
• Author Heading: 笠毛, 渓
• Publication, Distribution, etc.: Elsevier
• Publication Date: 2020; 157
• Publication Date (W3CDTF): 2020
• Alternative Title: A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms
• Periodical title: Neuroscience Research
• Degree grantor/type: 鹿児島大学
• Date Granted: 2020-01-28
• Date Granted (W3CDTF): 2020-01-28
• Dissertation Number: 甲総研第531号
• Degree Type: 博士(医学); Doctor of Philosophy in Medical Science
• Conferring No. (Dissertation): 甲総研第531号
• Text Language Code: eng
• Subject Heading: Progressive external ophthalmoplegia; Multiple mitochondrial DNA deletions; Whole-exome sequencing; PRIMPOL
• NDC: 490
• Target Audience: 一般
• Note (General): 博士論文全文, 博士論文要旨, 最終試験結果の要旨, 論文審査の要旨; Chronic progressive external ophthalmoplegia (CPEO) is one of the most common mitochondrial disorders. It is characterized by bilateral, slowly progressing loss of extraocular muscle mobility, orbicularis oculi weakness, ptosis and other neuromuscular symptoms, which are caused by the accumulation of multiple mitochondrial DNA (mtDNA) deletions. Many mutations in different nuclear genes, such as POLG1, POLG2, ANT1, and others, have been described as causing autosomal-inherited CPEO with multiple mtDNA deletions. Most causative genes are involved in mtDNA replication impairment. Here, we report a family with CPEO-like symptoms characterized by multiple muscle mtDNA deletions, ptosis, diabetes, hearing loss, mental retardation, and emotional instability. We performed genetic analyses to identify nuclear gene mutations in the family. DNA from the proband was analyzed by whole-exome sequencing. In addition to possible pathogenic mutations, rare variants were prioritized for gene-functional phenotype interpretation. We found possible pathogenetic mutations in the PRIMPOL, BRCA1, CPT2, and GJB2 genes, and functional polymorphisms in the CARD8, and MEFV genes. Multiple functional polymorphism and possible pathogenic mutations may contribute to mitochondrialdisease-like phenotypes in a composite manner.Kei Kasamo, Masayuki Nakamura, Yoko Daimou, Akira SanoA PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptomsNeuroscience Research, 157, 58-63, (2020)DOI:https://doi.org/10.1016/j.neures.2019.07.006
• DOI: info:doi/10.1016/j.neures.2019.07.006; https://doi.org/info:doi/10.1016/j.neures.2019.07.006
• Persistent ID (NDL): info:ndljp/pid/11673231; https://dl.ndl.go.jp/pid/11673231
• 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): 2021-05-20T03:24:30+09:00
• Date Created (W3CDTF): 2020-03-13
• Format (IMT): PDF; application/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
• Periodical Title (URI): http://hdl.handle.net/10232/00030887
• 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

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