Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis

Abstract

PURPOSE: To report a novel de novo mutation in the cone-rod homeobox ( CRX) gene in a Japanese patient with Leber congenital amaurosis (LCA). METHODS: The CRX gene was analyzed by direct genomic sequencing in a patient with LCA and in his healthy parents. A complete ophthalmologic examination was performed on the family. RESULTS: A heterozygotic deletion of G at nucleotid 520 in CRX, predicting a frameshift in codon 174 and a premature termination of translation [Ala174(1-bp del)], was identified in the proband. The mutation was not present in his unaffected parents. CONCLUSION: A novel de novo mutation in CRX was found in a Japanese patient with LCA.