Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family
Abstract Background Cone-rod dystrophy (CORD) is a group of inherited retinal dystrophies, characterized by decreased visual acuity, color vision defects, photophobia, and decreased sensitivity in the central visual field. Our study has identified a novel pathogenic variant associated with X-linked...
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| Format: | Article |
| Language: | English |
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BMC
2021-11-01
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| Series: | BMC Ophthalmology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12886-021-02166-0 |
| _version_ | 1818394605528285184 |
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| author | Yafang Wang Shu Liu Yuanqi Zhai Yang Liu Xiaoling Wan Wenqiu Wang Fenghua Wang Xiaodong Sun |
| author_facet | Yafang Wang Shu Liu Yuanqi Zhai Yang Liu Xiaoling Wan Wenqiu Wang Fenghua Wang Xiaodong Sun |
| author_sort | Yafang Wang |
| collection | DOAJ |
| description | Abstract Background Cone-rod dystrophy (CORD) is a group of inherited retinal dystrophies, characterized by decreased visual acuity, color vision defects, photophobia, and decreased sensitivity in the central visual field. Our study has identified a novel pathogenic variant associated with X-linked cone-rod dystrophy (XLCORD) in a Chinese family. Methods All six family members, including the proband, affected siblings, cousins and female carriers, have underwent thorough ophthalmic examinations. The whole exome sequencing was performed for the proband, followed by Sanger sequencing for spilt-sample validation. A mammalian expression vector (AAV-MCS) with mutated retinitis pigmentosa GTPase regulator (RPGR) sequence was expressed in HEK293 T cells. The mutated protein was verified by Western blotting and immunohistochemistry. Results A novel mutation in the RPGR gene (c.2383G > T, p.E795X) is identified to be responsible for CORD pathogenesis. Conclusions Our findings have expanded the spectrum of CORD-associated mutations in RPGR gene and serve as a basis for genetic diagnosis for X-linked CORD. |
| first_indexed | 2024-12-14T06:03:52Z |
| format | Article |
| id | doaj.art-b5641c5b625847eba5a9bd7b03ee1ef7 |
| institution | Directory Open Access Journal |
| issn | 1471-2415 |
| language | English |
| last_indexed | 2024-12-14T06:03:52Z |
| publishDate | 2021-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj.art-b5641c5b625847eba5a9bd7b03ee1ef72022-12-21T23:14:22ZengBMCBMC Ophthalmology1471-24152021-11-0121111010.1186/s12886-021-02166-0Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese familyYafang Wang0Shu Liu1Yuanqi Zhai2Yang Liu3Xiaoling Wan4Wenqiu Wang5Fenghua Wang6Xiaodong Sun7Department of Ophthalmology, Shanghai General Hospital (Shanghai First People’s Hospital), Shanghai Jiao Tong University School of MedicineDepartment of Ophthalmology, Shanghai General Hospital (Shanghai First People’s Hospital), Shanghai Jiao Tong University School of MedicineDepartment of Ophthalmology, Shanghai General Hospital (Shanghai First People’s Hospital), Shanghai Jiao Tong University School of MedicineDepartment of Ophthalmology, Shanghai General Hospital (Shanghai First People’s Hospital), Shanghai Jiao Tong University School of MedicineDepartment of Ophthalmology, Shanghai General Hospital (Shanghai First People’s Hospital), Shanghai Jiao Tong University School of MedicineDepartment of Ophthalmology, Shanghai General Hospital (Shanghai First People’s Hospital), Shanghai Jiao Tong University School of MedicineDepartment of Ophthalmology, Shanghai General Hospital (Shanghai First People’s Hospital), Shanghai Jiao Tong University School of MedicineDepartment of Ophthalmology, Shanghai General Hospital (Shanghai First People’s Hospital), Shanghai Jiao Tong University School of MedicineAbstract Background Cone-rod dystrophy (CORD) is a group of inherited retinal dystrophies, characterized by decreased visual acuity, color vision defects, photophobia, and decreased sensitivity in the central visual field. Our study has identified a novel pathogenic variant associated with X-linked cone-rod dystrophy (XLCORD) in a Chinese family. Methods All six family members, including the proband, affected siblings, cousins and female carriers, have underwent thorough ophthalmic examinations. The whole exome sequencing was performed for the proband, followed by Sanger sequencing for spilt-sample validation. A mammalian expression vector (AAV-MCS) with mutated retinitis pigmentosa GTPase regulator (RPGR) sequence was expressed in HEK293 T cells. The mutated protein was verified by Western blotting and immunohistochemistry. Results A novel mutation in the RPGR gene (c.2383G > T, p.E795X) is identified to be responsible for CORD pathogenesis. Conclusions Our findings have expanded the spectrum of CORD-associated mutations in RPGR gene and serve as a basis for genetic diagnosis for X-linked CORD.https://doi.org/10.1186/s12886-021-02166-0Cone-rod dystrophyRPGRMutation |
| spellingShingle | Yafang Wang Shu Liu Yuanqi Zhai Yang Liu Xiaoling Wan Wenqiu Wang Fenghua Wang Xiaodong Sun Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family BMC Ophthalmology Cone-rod dystrophy RPGR Mutation |
| title | Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family |
| title_full | Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family |
| title_fullStr | Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family |
| title_full_unstemmed | Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family |
| title_short | Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family |
| title_sort | identification of a novel rpgr mutation associated with x linked cone rod dystrophy in a chinese family |
| topic | Cone-rod dystrophy RPGR Mutation |
| url | https://doi.org/10.1186/s12886-021-02166-0 |
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