Novel de novo mutation in CRX gene in a Japanee patient with leber congenital amauroi

PURPOE: To report a novel de novo mutation in the cone-rod homeobox (CRX) gene in a Japanee patient with Leber congenital amauroi (LCA). METHOD: The CRX gene wa analyzed by direct genomic equencing in a patient with LCA and in hi healthy parent. A complete ophthalmologic examination wa performed on the family. REULT: A heterozygotic deletion of G at nucleotid 520 in CRX, predicting a framehift in codon 174 and a premature termination of tranlation [Ala174(1-bp del)], wa identified in the proband. The mutation wa not preent in hi unaffected parent. CONCLUION: A novel de novo mutation in CRX wa found in a Japanee patient with LCA