Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: <i>SRD5A3</i>-Congenital Disorders of Glycosylation and <i>RP1</i>-Related Retinitis Pigmentosa
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 dystrophi...
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MDPI AG
2022-02-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/2/359 |
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| author | Nobutaka Tachibana Katsuhiro Hosono Shuhei Nomura Shinji Arai Kaoruko Torii Kentaro Kurata Miho Sato Shuichi Shimakawa Noriyuki Azuma Tsutomu Ogata Yoshinao Wada Nobuhiko Okamoto Hirotomo Saitsu Sachiko Nishina Yoshihiro Hotta |
| author_facet | Nobutaka Tachibana Katsuhiro Hosono Shuhei Nomura Shinji Arai Kaoruko Torii Kentaro Kurata Miho Sato Shuichi Shimakawa Noriyuki Azuma Tsutomu Ogata Yoshinao Wada Nobuhiko Okamoto Hirotomo Saitsu Sachiko Nishina Yoshihiro Hotta |
| author_sort | Nobutaka Tachibana |
| collection | DOAJ |
| description | 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 <i>SRD5A3</i> 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 <i>RP1</i> was detected homozygously. Maternal UPD on chromosome 8 was suspected. The clinical picture was consistent with <i>RP1</i>-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. |
| first_indexed | 2024-03-09T21:52:20Z |
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| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T21:52:20Z |
| publishDate | 2022-02-01 |
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| series | Genes |
| spelling | doaj.art-eeb5cf34b1144c4e930626932f1e7bc32023-11-23T20:05:37ZengMDPI AGGenes2073-44252022-02-0113235910.3390/genes13020359Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: <i>SRD5A3</i>-Congenital Disorders of Glycosylation and <i>RP1</i>-Related Retinitis PigmentosaNobutaka Tachibana0Katsuhiro Hosono1Shuhei Nomura2Shinji Arai3Kaoruko Torii4Kentaro Kurata5Miho Sato6Shuichi Shimakawa7Noriyuki Azuma8Tsutomu Ogata9Yoshinao Wada10Nobuhiko Okamoto11Hirotomo Saitsu12Sachiko Nishina13Yoshihiro Hotta14Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanDepartment of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanDepartment of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanDepartment of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanDepartment of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanDepartment of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanDepartment of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanDepartment of Pediatrics, Osaka Medical and Pharmaceutical University Hospital, Takatsuki 569-8686, JapanNational Center for Child Health and Development, Department of Ophthalmology and Laboratory for Visual Science, Tokyo 157-8535, JapanDepartment of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanDepartment of Molecular Medicine, Osaka Women’s and Children’s Hospital, Izumi 594-1101, JapanDepartment of Molecular Medicine, Osaka Women’s and Children’s Hospital, Izumi 594-1101, JapanDepartment of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanNational Center for Child Health and Development, Department of Ophthalmology and Laboratory for Visual Science, Tokyo 157-8535, JapanDepartment of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanPurpose: 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 <i>SRD5A3</i> 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 <i>RP1</i> was detected homozygously. Maternal UPD on chromosome 8 was suspected. The clinical picture was consistent with <i>RP1</i>-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.https://www.mdpi.com/2073-4425/13/2/359uniparental isodisomyretinal dystrophycongenital disorders of glycosylation<i>SRD5A3</i> geneRP1-related retinitis pigmentosa |
| spellingShingle | Nobutaka Tachibana Katsuhiro Hosono Shuhei Nomura Shinji Arai Kaoruko Torii Kentaro Kurata Miho Sato Shuichi Shimakawa Noriyuki Azuma Tsutomu Ogata Yoshinao Wada Nobuhiko Okamoto Hirotomo Saitsu Sachiko Nishina Yoshihiro Hotta Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: <i>SRD5A3</i>-Congenital Disorders of Glycosylation and <i>RP1</i>-Related Retinitis Pigmentosa Genes uniparental isodisomy retinal dystrophy congenital disorders of glycosylation <i>SRD5A3</i> gene RP1-related retinitis pigmentosa |
| title | Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: <i>SRD5A3</i>-Congenital Disorders of Glycosylation and <i>RP1</i>-Related Retinitis Pigmentosa |
| title_full | Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: <i>SRD5A3</i>-Congenital Disorders of Glycosylation and <i>RP1</i>-Related Retinitis Pigmentosa |
| title_fullStr | Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: <i>SRD5A3</i>-Congenital Disorders of Glycosylation and <i>RP1</i>-Related Retinitis Pigmentosa |
| title_full_unstemmed | Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: <i>SRD5A3</i>-Congenital Disorders of Glycosylation and <i>RP1</i>-Related Retinitis Pigmentosa |
| title_short | Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: <i>SRD5A3</i>-Congenital Disorders of Glycosylation and <i>RP1</i>-Related Retinitis Pigmentosa |
| title_sort | maternal uniparental isodisomy of chromosome 4 and 8 in patients with retinal dystrophy i srd5a3 i congenital disorders of glycosylation and i rp1 i related retinitis pigmentosa |
| topic | uniparental isodisomy retinal dystrophy congenital disorders of glycosylation <i>SRD5A3</i> gene RP1-related retinitis pigmentosa |
| url | https://www.mdpi.com/2073-4425/13/2/359 |
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