Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa

• Material Type: 博士論文
• Title: Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa
• Author/Editor: 立花, 信貴
• Author Heading: 立花, 信貴
• Publication, Distribution, etc.: MDPI (Multidisciplinary Digital Publishing Institute)
• Publication Date: 2022-02-16
• Publication Date (W3CDTF): 2022-02-16
• Alternative Title: 網膜ジストロフィ患者における第4と第8染色体の母性片親性イソダイソミー; SRD5A3関連先天性グリコシル化異常症とRP1関連網膜色素変性
• Degree grantor/type: 浜松医科大学
• Date Granted: 2022-07-22
• Date Granted (W3CDTF): 2022-07-22
• Dissertation Number: 乙第591号
• Degree Type: 博士（医学）
• Text Language Code: eng
• Subject Heading: uniparental isodisomy; retinal dystrophy; congenital disorders of glycosylation; SRD5A3 gene; RP1-related retinitis pigmentosa
• Target Audience: 一般
• Note (General): doctoral; 医学系研究科; Purpose: Uniparental disomy (UPD) is a rare chromosomal abnormality. We performed whole-exosome sequencing (WES) in cases of early-onset retinal dystrophy and identified two cases likely caused by UPD. Herein, we report these two cases and attempt to clarify the clinical picture of retinal dystrophies caused by UPD. Methods: WES analysis was performed for two patients and their parents, who were not consanguineous. Functional analysis was performed in cases suspected of congenital disorders of glycosylation (CDG). We obtained clinical case data and reviewed the literature. Results: In case 1, a novel c.57G>C, p.(Trp19Cys) variant in SRD5A3 was detected homozygously. Genetic analysis suggested a maternal UPD on chromosome 4, and functional analysis confirmed CDG. Clinical findings showed early-onset retinal dystrophy, intellectual disability, and epilepsy. In case 2, an Alu insertion (c.4052_4053ins328, p.[Tyr1352Alafs]) in RP1 was detected homozygously. Maternal UPD on chromosome 8 was suspected. The clinical picture was consistent with RP1-related retinitis pigmentosa. Although the clinical features of retinal dystrophy by UPD may vary, most cases present with childhood onset. Conclusions: There have been limited reports of retinal dystrophy caused by UPD, suggesting that it is rare. Genetic counseling may be encouraged in pediatric cases of retinal dystrophy.
• Persistent ID (NDL): info:ndljp/pid/12694235; https://dl.ndl.go.jp/pid/12694235
• 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): 2023-03-07T16:07:55+09:00
• 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/10271/00004266; https://hama-med.repo.nii.ac.jp/records/4144
• 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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