دورية أكاديمية
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene
| العنوان: | Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene |
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| المؤلفون: | Yahya, S., Smith, C. E. L., Poulter, J. A., McKibbin, M., Arno, G., Ellingford, J., Kämpjärvi, K., Khan, M. I., Cremers, F. P. M., Hardcastle, A. J., Castle, B., Steel, D. H. W., Webster, A. R., Black, G. C., El-Asrag, M. E., Ali, M., Toomes, C., Inglehearn, C. F. |
| بيانات النشر: | Elsevier |
| سنة النشر: | 2022 |
| المجموعة: | RD&E Research Repository (Royal Devon and Exeter NHS Foundation Trust) |
| مصطلحات موضوعية: | Amd, Crx, Macular disease, Retinal disease, Sult2a1, Tprx1 |
| الوصف: | PURPOSE: To characterize the phenotype observed in a case series with macular disease and determine the cause. DESIGN: Multicenter case series. PARTICIPANTS: Six families (7 patients) with sporadic or multiplex macular disease with onset at 20 to 78 years, and 1 patient with age-related macular degeneration. METHODS: Patients underwent ophthalmic examination; exome, genome, or targeted sequencing; and/or polymerase chain reaction (PCR) amplification of the breakpoint, followed by cloning and Sanger sequencing or direct Sanger sequencing. MAIN OUTCOME MEASURES: Clinical phenotypes, genomic findings, and a hypothesis explaining the mechanism underlying disease in these patients. RESULTS: All 8 cases carried the same deletion encompassing the genes TPRX1, CRX, and SULT2A1, which was absent from 382 control individuals screened by breakpoint PCR and 13 096 Clinical Genetics patients with a range of other inherited conditions screened by array comparative genomic hybridization. Microsatellite genotypes showed that these 7 families are not closely related, but genotypes immediately adjacent to the deletion breakpoints suggest they may share a distant common ancestor. CONCLUSIONS: Previous studies had found that carriers for a single defective CRX allele that was predicted to produce no functional CRX protein had a normal ocular phenotype. Here, we show that CRX whole-gene deletion in fact does cause a dominant late-onset macular disease. ; The article is available via Open Access. Click on the 'Additional link' above to access the full-text. ; Published version, accepted version (12 months embrago) |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://linkinghub.elsevier.com/retrieve/pii/S0161-6420Test(22)00565-6; Ophthalmology. 2022 Aug 5:S0161-6420(22)00565-6. doi:10.1016/j.ophtha.2022.07.023.; https://rde.dspace-express.com/handle/11287/622604Test; Ophthalmology |
| DOI: | 10.1016/j.ophtha.2022.07.023 |
| الإتاحة: | https://doi.org/10.1016/j.ophtha.2022.07.023Test https://rde.dspace-express.com/handle/11287/622604Test |
| حقوق: | Copyright © 2022 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved. ; http://creativecommons.org/publicdomain/zero/1.0Test/ |
| رقم الانضمام: | edsbas.AA986C60 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.ophtha.2022.07.023 |
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