Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa

• Material Type: 博士論文
• Title: Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa
• Author/Editor: Zhao, Yang
• Author Heading: Zhao, Yang
• Publication Date: 2013-09-20
• Publication Date (W3CDTF): 2013-09-20
• Alternative Title: 非症候群性の常染色体劣性網膜色素変性の日本人患者におけるUSH2A遺伝子の変異解析
• Degree grantor/type: 浜松医科大学
• Date Granted: 2013-09-20
• Date Granted (W3CDTF): 2013-09-20
• Dissertation Number: 甲第660号
• Degree Type: 博士（医学）
• Conferring No. (Dissertation): 甲第660号
• Text Language Code: eng
• Subject Heading: Retinitis pigmentosa; autosomal recessive; USH2A gene; Japanese patient
• Target Audience: 一般
• Note (General): doctoral; 医学系研究科; Objective: To identify disease-causing USH2A (Usher syndrome 2A) gene mutations in Japanese patients with non-syndromic retinitis pigmentosa (RP).Design: Case series. Participants: Hundred unrelated Japanese patients with no systemic manifestations of RP were identified, with the exclusion of families with obvious autosomal dominant inheritance. From these 100 patients, 18 RP patients with very likely pathogenic EYS (eyes shut homolog) gene mutations were excluded; finally, 82 patients were included in the study. The ophthalmological data of previously reported 13 unrelated Japanese patients with Usher syndrome (USH) by USH2A mutations were also collected.Methods: To determine the prevalence of USH2A gene mutations, all 72 exons were screened for mutations by polymerase chain reaction amplification. The phenotype analysis was based on ophthalmic examination and audiograms.Main Outcome Measures: DNA sequence variants, visual acuity, visual field assessments using Goldmann kinetic perimetry, optical coherence tomography images, and audiograms.Results: Mutation analysis of the USH2A gene revealed 5 very likely pathogenic mutations in 4 patients, 1 of whom did not have another possible pathogenic mutation. These very likely pathogenic mutations consisted of a deletion mutation, 2 splicing mutations, and 2 missense mutations. In addition, we also identified 3 possible pathogenic mutations in 3 individual patients. All the 4 patients with 1 or 2 very likely pathogenic mutations and 13 USH patients with USH2A mutations exhibited typical clinical features of RP, with the central visual acuity preserved relatively well up to their thirties.Conclusions: The spectrum of USH2A gene mutations among Japanese non-syndromic RP patients largely differs from that among European or North American population. Considering only 1 or 2 deleterious mutations, the observed prevalence of distinct USH2A gene mutations among Japanese arRP patients is 4% (4/100).
• DOI: info:doi/10.1038/jhg.2014.65; https://doi.org/info:doi/10.1038/jhg.2014.65
• Persistent ID (NDL): info:ndljp/pid/9529538; https://dl.ndl.go.jp/pid/9529538
• 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): 2015-11-01T14:53:18+09:00
• Date Created (W3CDTF): 2018-08-27
• Format (IMT): application/pdf; text/html
• 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/10271/2768; https://hama-med.repo.nii.ac.jp/records/2640
• 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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