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.