Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype

Abstract

Purpose: To screen for possible disease-causing mutations in the CRX gene in Chinese patients with Leber congenital amaurosis (LCA) and to enrich the understanding of its mutational phenotype. Methods: Genomic DNA was collected from 27 patients with LCA. The coding sequences of the CRX gene were analyzed using the PCR-heteroduplex-SSCP method. Mutations were confirmed by DNA sequencing. Results: We identified two heterozygous variations in the CRX gene in two patients with LCA. One was a deletion (GCC?-CC, A181?1bp) leading to a frameshift and protein truncation. This mutation was present in a patient with LCA, but not in his healthy parents. The ocular manifestations of this A181?1bp mutation are described. An intronic variation (IVS1-13G?C) was found in a patient with LCA as well as in his healthy father. Conclusion: A heterozygous A181?1bp mutation in the CRX gene caused an LCA phenotype in a Chinese patient.