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Thaddeus P. Dryja, Jennifer A. McEvoy, Terri L. McGee, Eliot L. Berson; Novel Rhodopsin Mutations Gly114Val and Gln184Pro in Dominant Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2000;41(10):3124-3127.
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purpose. To identify mutations in the rhodopsin gene in North American patients
with autosomal dominant retinitis pigmentosa (ADRP) and to measure the
proportion of cases with rhodopsin mutations.
methods. Single-strand conformation polymorphism (SSCP) analysis and direct
genomic sequencing were used to evaluate the coding region and intron
splice sites of the rhodopsin gene for mutations in 91 unrelated
results. Nineteen patients heterozygously carried a missense change in the
rhodopsin gene (six with Pro23His, two with Pro347Leu, and one each
with Thr17Met, Phe45Leu, Gly51Arg, Gly89Asp, Gly114Val, Arg135Trp,
Pro171Leu, Gln184Pro, Phe220Leu, Ser297Arg, and Pro347Thr). All these
missense changes were previously reported as causes for ADRP except for
Gly114Val, Gln184Pro, and Phe220Leu, which were evaluated further by
examining the relatives of index patients. The Gly114Val and Gln184Pro
alleles cosegregated with ADRP as expected if they were pathogenic.
Phe220Leu did not, indicating that it is not a cause of ADRP.
conclusions. Summation of the results of cases in this study with those of 272
unrelated cases of ADRP previously evaluated by our group shows that 90
of 363 (25%) of cases were caused by rhodopsin
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