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Myrto Papaioannou, Louise Ocaka, David Bessant, Noemi Lois, Alan Bird, Annette Payne, Shomi Bhattacharya; An Analysis of ABCR Mutations in British Patients with Recessive Retinal Dystrophies. Invest. Ophthalmol. Vis. Sci. 2000;41(1):16-19.
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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
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
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
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