[Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism].

Objective To detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism. Methods Peripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing. Results A previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father. As predicted, the mutation has resulted in a stop codon, causing premature termination of protein translation. Conclusion A novel mutation of the GPR143 gene related to X-linked ocular albinism has been identified. Key words: Ocular albinism; GPR143 gene; De novo mutation