An Analysis of ABCR Mutations in British Patients with Recessive Retinal Dystrophies
| Autor: | Papaioannou, Myrto G., Bhattacharya, Shom Shanker |
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| Rok vydání: | 2000 |
| Zdroj: | Digital.CSIC. Repositorio Institucional del CSIC instname |
| Popis: | 4 páginas, 3 tablas.-- et al. [Purpose]: Several reports have shown that mutations in the ABCR gene can lead to Stargardt disease (STGD)/fundus flavimaculatus (FFM), autosomal recessive retinitis pigmentosa (arRP), and autosomal recessive cone-rod dystrophy (arCRD). To assess the involvement of ABCR in these retinal dystrophies, the gene was screened in a panel of 70 patients of British origin. [Methods]: Fifty-six patients exhibiting the STGD/FFM phenotype, 6 with arRP, and 8 with arCRD, were screened for mutations in the 50 exons of the ABCR gene by heteroduplex analysis and direct sequencing. Microsatellite marker haplotyping was used to determine ancestry. [Results]: In the 70 patients analyzed, 31 sequence changes were identified, of which 20 were considered to be novel mutations, in a variety of phenotypes. An identical haplotype was associated with the same pair of in-cis alterations in 5 seemingly unrelated patients and their affected siblings with STGD/FFM. Four of the aforementioned patients were found to carry three alterations in the coding sequence of the ABCR gene, with two of them being in-cis. [Conclusions]: These results suggest that ABCR is a relatively polymorphic gene. Because putative mutations have been identified thus far only in 25 of 70 patients, of whom only 8 are compound heterozygotes, a large number of mutations have yet to be ascertained. The disease haplotype seen in the 5 patients carrying the same“ complex” allele is consistent with the presence of a common ancestor. Supported by a short-term fellowship from the Concerted Action of the European Communities for the Prevention of Blindness (MP); by Grant No. G9301094 from the Medical Research Council; and by Grant No. 039283/2/93/Z/MW/JF (for equipment facilities) from the Wellcome Trust. |
| Databáze: | OpenAIRE |
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