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K.M. Nishiguchi, E.L. Berson, T.P. Dryja; Mutation Screening of the Phosducin Gene in Patients With Retinitis Pigmentosa and Other Hereditary Retinal Diseases . Invest. Ophthalmol. Vis. Sci. 2003;44(13):2323.
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Purpose: To screen patients with retinitis pigmentosa (RP) and other hereditary retinal diseases for mutations in the phosducin gene. Phosducin modulates the phototransduction cascade by binding to the ßγ complex of transducin. In spite of the fact that genes encoding many other members of the phototransduction cascade are causes of RP and allied diseases, the only published analysis of this gene by another group did not report any disease-causing mutations among 83 patients with various retinal diseases (Iwata et al., Ophthalmic Genet. 17:3-14, 1996). Here we report our screen of the gene in a larger number of patients with retinitis pigmentosa and allied diseases. Methods: The phosducin gene consists of 4 exons, 3 of which are coding. Three pairs of oligonucleotide primers were designed in the flanking intron sequences to amplify the entire coding sequence and the intron splice sites . We directly sequenced the leukocyte DNA from a total of 657 unrelated patients with retinitis pigmentosa and other hereditary retinal diseases including 193 patients with autosomal dominant retinitis pigmentosa (RP), 225 patients with autosomal recessive RP, and 63 patients with Leber congenital amaurosis. Results: Thus far, exons 3 and 4 have been analyzed. One heterozygous iso-coding sequence variant was identified (Arg148Arg, AGG>AGA) in a patient with atypical retinal degeneration. This change was evaluated with splice site prediction software and was predicted not likely to affect RNA splicing. Therefore, this change was interpreted as nonpathogenic. To date, no polymorphisms were identified in the regions screened, which in total include 1479 bps of genomic sequence. Conclusions: Although we have not identified any mutations in exon 3 and exon 4 of the phosducin gene that appeared to be pathogenic, further evaluation of the gene is ongoing.
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