The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis
Abstract X-linked juvenile retinoschisis (XLRS) is an inherited retinal disease caused by mutations in the RS1 gene, resulting in splitting of the retinal layers and visual disturbances. To provide insights on this disease in our cohort, genetic examination, clinical presentation, and functional ana...
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Nature Portfolio
2025-01-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-024-84161-1 |
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| author | Ragkit Suvannaboon Aekkachai Tuekprakhon Aulia Rahmi Pawestri Phitchapa Pongpaksupasin Adisak Trinavarat La-ongsri Atchaneeyasakul |
| author_facet | Ragkit Suvannaboon Aekkachai Tuekprakhon Aulia Rahmi Pawestri Phitchapa Pongpaksupasin Adisak Trinavarat La-ongsri Atchaneeyasakul |
| author_sort | Ragkit Suvannaboon |
| collection | DOAJ |
| description | Abstract X-linked juvenile retinoschisis (XLRS) is an inherited retinal disease caused by mutations in the RS1 gene, resulting in splitting of the retinal layers and visual disturbances. To provide insights on this disease in our cohort, genetic examination, clinical presentation, and functional analysis were performed. We observed three main RS1 mutations in our cohort of six unrelated patients: RS1-D126G, RS1-R209H, and RS1-R213W. The RS1-D126G mutation, exclusively reported in Thai patients so far, showed the highest prevalence. Phenotypically, the D126G mutation manifested early (0.3–4 years old), presenting as asymmetrical visual acuity and schisis. Functional analysis revealed that the molecular pathomechanism of D126G was the failure of protein secretion attributable to endoplasmic reticulum retention. The understanding of the genotype-phenotype relationship and the pathomechanisms of specific mutations in a particular population could immensely benefit the pipeline of personalised treatment design for XLRS. |
| format | Article |
| id | doaj-art-9e2bd93b08b34f6a995f4a5619ea3289 |
| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Nature Portfolio |
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| series | Scientific Reports |
| spelling | doaj-art-9e2bd93b08b34f6a995f4a5619ea32892025-01-05T12:17:40ZengNature PortfolioScientific Reports2045-23222025-01-0115111310.1038/s41598-024-84161-1The D126G mutation contributes to the early-onset X-linked juvenile retinoschisisRagkit Suvannaboon0Aekkachai Tuekprakhon1Aulia Rahmi Pawestri2Phitchapa Pongpaksupasin3Adisak Trinavarat4La-ongsri Atchaneeyasakul5Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol UniversityDepartment of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol UniversityFaculty of Medicine, Universitas BrawijayaDepartment of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol UniversityDepartment of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol UniversityDepartment of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol UniversityAbstract X-linked juvenile retinoschisis (XLRS) is an inherited retinal disease caused by mutations in the RS1 gene, resulting in splitting of the retinal layers and visual disturbances. To provide insights on this disease in our cohort, genetic examination, clinical presentation, and functional analysis were performed. We observed three main RS1 mutations in our cohort of six unrelated patients: RS1-D126G, RS1-R209H, and RS1-R213W. The RS1-D126G mutation, exclusively reported in Thai patients so far, showed the highest prevalence. Phenotypically, the D126G mutation manifested early (0.3–4 years old), presenting as asymmetrical visual acuity and schisis. Functional analysis revealed that the molecular pathomechanism of D126G was the failure of protein secretion attributable to endoplasmic reticulum retention. The understanding of the genotype-phenotype relationship and the pathomechanisms of specific mutations in a particular population could immensely benefit the pipeline of personalised treatment design for XLRS.https://doi.org/10.1038/s41598-024-84161-1 |
| spellingShingle | Ragkit Suvannaboon Aekkachai Tuekprakhon Aulia Rahmi Pawestri Phitchapa Pongpaksupasin Adisak Trinavarat La-ongsri Atchaneeyasakul The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis Scientific Reports |
| title | The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis |
| title_full | The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis |
| title_fullStr | The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis |
| title_full_unstemmed | The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis |
| title_short | The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis |
| title_sort | d126g mutation contributes to the early onset x linked juvenile retinoschisis |
| url | https://doi.org/10.1038/s41598-024-84161-1 |
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