Two novel point mutation of the XLR1 gene in patient with X-linked juvenile retinochii

PURPOE: To report two novel point mutation of the XLR1 gene in two Japanee patient with X-linked juvenile retinochii. DEIGN: Obervational cae report. METHOD: The exon, including the flanking intron of XLR1, were amplified by polymerae chain reaction and analyzed by direct equencing. REULT: One novel plice donor ite mutation (IV2 + 1g to a) and one miene mutation of exon 6 (Ala211Thr) were found. CONCLUION: Genetic finding identifying mutation in the XLR1 gene will lead to earlier and more accurate diagnoi of X-linked juvenile retinochii.