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• W2079174002 abstract "X-linked retinitis pigmentosa (XLRP) results from mutations in a number of loci, including RP2 at Xp11.3, and RP3 at Xp21.1. RP2 and RP3 genes have been identified by positional cloning. RP2 mutations are found in about 10% of XLRP patients. We performed a mutational screening of RP2 gene inpatients belonging to seven unrelated families in linkage with the RP2 locus. SSCP analysis detected three conformation variants, within exon 2 and 3. Direct sequencing of exon 2, disclosed a G-->A transition at nucleotide 449 (W150X), and a G-->T transversion in position 547 (E183X). Sequence analysis of exon 3 variant revealed an insertion (853/854insG), leading to a frameshift. In this patient, we detected an additional sequence alteration (A-->G at nucleotide 848, E283G). Each mutation was co-segregating with the disease in the affected family members available for the study. These mutations are expected to introduce a stop codon within the RP2 coding sequence probably resulting in a truncated or unstable protein." @default.
• W2079174002 created "2016-06-24" @default.
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• W2079174002 date "2001-01-01" @default.
• W2079174002 modified "2023-09-22" @default.
• W2079174002 title "Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa" @default.
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• W2079174002 doi "https://doi.org/10.1016/s1383-5726(00)00007-8" @default.
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