Genomewide array comparative genomic hybridization in 55 Japanese normokaryotypic patients with non-syndromic intellectual disability

• Material Type: 博士論文
• Title: Genomewide array comparative genomic hybridization in 55 Japanese normokaryotypic patients with non-syndromic intellectual disability
• Author/Editor: Asahina, Miki
• Author Heading: Asahina, Miki
• Publication, Distribution, etc.: OMICS International
• Publication Date: 2016-11-07
• Publication Date (W3CDTF): 2016-11-07
• Alternative Title: 正常核型を有する日本人非症候性知的障害患者55例のゲノムワイドアレイ比較ゲノムハイブリダイゼーション法による解析
• Periodical title: Journal of Pediatric Neurological Disorders
• Degree grantor/type: 浜松医科大学
• Date Granted: 2017-03-13
• Date Granted (W3CDTF): 2017-03-13
• Dissertation Number: 甲第758号
• Degree Type: 博士（医学）
• Conferring No. (Dissertation): 甲第758号
• Text Language Code: eng
• Subject Heading: Array comparative genomic hybridization; Intellectual disability; Copy number variants; Pathogenic gene; Clinical finding
• Target Audience: 一般
• Note (General): doctoral; 医学系研究科; Background: Genomewide array comparative genomic hybridization (aCGH) has widely been utilized as the diagnostic tool in patients with non-syndromic intellectual disability (ID). Indeed, aCGH has identified pathogenic copy number variants (pCNVs), as well as variants of uncertain clinical significance (VsUS) and benign CNVs (bCNVs), in such patients.Aims: To examine the frequencies of various CNVs and clinical findings in patients with non-syndromic ID.Patients and methods: We studied 55 Japanese normokaryotypic patients (35 males, 20 females) with apparently non-syndromic ID. Genomewide aCGH was performed using leukocyte genomic DNA samples. Clinical findings were compared among patients with pCNVs (group 1), those with VsUS (group 2), and those with bCNVs or no CNVs (group 3).Results: Nine patients had pCNVs: one had 5p deletion syndrome, two had 22q11.2 deletion syndrome, one had 17q23.1q23.2 microdeletion syndrome, three had CNVs involving known pathogenic genes, and the remaining two had CNVs overlapping with previously described CNVs in patients with ID (one with duplication at 1q36 and the other with deletion at 12q42). Furthermore, 11 patients had VsUS, and nine patients had bCNVs. Clinical findings were grossly comparable among groups 1-3.Conclusions: The results provide further support for the usefulness of aCGH in the identification of underlying genetic factor(s) for ID, although there was no clinical finding indicative of the presence of pCNVs or VsUS. Furthermore, our data are expected to serve to identify pathogenic genes on chromosomes 1q36 and 12q42, as well as those on several VsUS.
• DOI: info:doi/10.4172/2572-5203.1000108; https://doi.org/info:doi/10.4172/2572-5203.1000108
• Persistent ID (NDL): info:ndljp/pid/11063590; https://dl.ndl.go.jp/pid/11063590
• 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): 2018-04-03T03:53:09+09:00
• Date Created (W3CDTF): 2018-08-27
• Format (IMT): 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/10271/3224; https://hama-med.repo.nii.ac.jp/records/3082
• 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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