Identification of a Novel Mutation in a Chinese Family with X-Linked Ocular Albinism

Abstract

Purpose The purpose of the study was to evaluate the GPR143 gene (G-protein coupled receptor 143) in a Chinese three-generation family with OA1, including four carriers and a proband with clinical features of X-linked ocular albinism. Methods The proband underwent a detailed ophthalmologic evaluation. Blood samples of family members were obtained and genomic DNA isolated. Mutational analysis by SSCP and direct sequencing of the GPR143 gene was used to screen all nine exons including the intron/exon junctions. The novel mutation c.943G>T (p.G315X) found in the study was confirmed by DHPLC to exclude the possibility of polymorphism. Results Ophthalmic features of the proband were characteristic of X-linked ocular albinism. The authors identified a novel nonsense mutation p.G315X on exon 8 that was not found in 100 non-albinism subjects by DHPLC. This novel mutation in the GPR143 gene is predicted to subject to nonsense mediated decay. Conclusions The novel mutation p.G315X in the OA1 gene was identified in a Chinese family with ocular albinism, which is predicted to generate a premature stop codon. These findings extend the mutational spectrum of GPR143 gene and will be useful for gene diagnosis and genetic counseling in Chinese OA1 patients.