{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:38:02Z","timestamp":1791326282849,"version":"4.3.1"},"reference-count":38,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T00:00:00Z","timestamp":1644969600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["20K09825"],"award-info":[{"award-number":["20K09825"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["16K11284"],"award-info":[{"award-number":["16K11284"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","award":["none"],"award-info":[{"award-number":["none"]}],"id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health Labour and Welfare","doi-asserted-by":"publisher","award":["20FC1055"],"award-info":[{"award-number":["20FC1055"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP18ek0109301"],"award-info":[{"award-number":["JP18ek0109301"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21ek0109418"],"award-info":[{"award-number":["JP21ek0109418"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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&gt;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.<\/jats:p>","DOI":"10.3390\/genes13020359","type":"journal-article","created":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T20:26:41Z","timestamp":1645043201000},"page":"359","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3492-5242","authenticated-orcid":false,"given":"Nobutaka","family":"Tachibana","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsuhiro","family":"Hosono","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuhei","family":"Nomura","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1618-1304","authenticated-orcid":false,"given":"Shinji","family":"Arai","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaoruko","family":"Torii","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kentaro","family":"Kurata","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miho","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuichi","family":"Shimakawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Osaka Medical and Pharmaceutical University Hospital, Takatsuki 569-8686, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriyuki","family":"Azuma","sequence":"additional","affiliation":[{"name":"National Center for Child Health and Development, Department of Ophthalmology and Laboratory for Visual Science, Tokyo 157-8535, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan"},{"name":"Hamamatsu Medical Center, Department of Pediatrics, Hamamatsu 432-8580, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinao","family":"Wada","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5415-656X","authenticated-orcid":false,"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"},{"name":"Department of Medical Genetics, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sachiko","family":"Nishina","sequence":"additional","affiliation":[{"name":"National Center for Child Health and Development, Department of Ophthalmology and Laboratory for Visual Science, Tokyo 157-8535, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4052-5066","authenticated-orcid":false,"given":"Yoshihiro","family":"Hotta","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/ajmg.1320060207","article-title":"A New Genetic Concept: Uniparental Disomy and Its Potential Effect, Isodisomy","volume":"6","author":"Engel","year":"1980","journal-title":"Am. 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