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N. Nao-i, A. Uchida, A. Yokoyama, M. Hayakawa, A. Murakami, Y. Takami; Novel Mutations of RPGR Gene in Japanese Families With X-Linked Retinitis Pigmentosa . Invest. Ophthalmol. Vis. Sci. 2003;44(13):2311.
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Purpose: To study the spectrum and frequency of mutations in RPGR emphasizing the exon ORF15 in Japanese patients with X-linked retinitis pigmentosa (XLRP). Methods: Blood was obtained from affected, carrier, and unaffected relatives. Exon 1-19,15a and ORF 15 of the RPGR gene were screened for mutations in 23 Japanese families with XLRP or with likely XLRP based on limited pedigree analysis. Comprehensive examination including ISCEV standard ERG and perimetry was performed. Results: We have identified pathogenic mutations of ORF15 in six families. Three unrelated patients share the same mutation, del GA at bases 651-652 in ORF 15 (g.ORF15+651-652delGA). Each patient of three other families had a frameshift mutation in exon ORF15, respectively (g.ORF15+753-754 ins G, g.ORF15+833-834delGG, g.ORF15+861-862insGG). These mutations segregated together with XLRP disease in each family. Eighty normal Japanese individuals (117 chromosomes) did not have these mutations. In another family, deletion of exon 1-11 of RPGR was suspected because PCR did not amplify exon 1-11. Exon 12-19 and ORF 15 were successfully amplified in this patient. In families with a RPGR mutation, affected males showed typical RP. Obligate carrier females showed a wide spectrum of clinical features, from minor symptoms to severe visual disability. High myopia and astigmatism were frequently observed and the corrected visual acuity was insufficient in most carrier females. Conclusions: Our data support the involvement of RPGR in Japanese XLRP. RPGR gene exon ORF15 may be a mutational hot spot in Japanese XLRP.
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