GPR143

A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree

C. Y. Cai, Zhu, H., Shi, W., Su, L., Shi, O., Cai, C. Q., Ling, C., and Li, W. D., A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree, vol. 12, pp. 5673-5679, 2013.

Ocular albinism is an X-linked inherited disease characterized by hypopigmentation of the iris and nystagmus. To identify a new disease-causing mutation of ocular albinism, we collected a Han Chinese pedigree with 7 male congenital nystagmus patients over 3 generations. Slit-lamp photography and optical coherence tomography were performed for the proband. Genomic DNA was extracted from a whole blood sample from the proband using the high-salt method. Polymerase chain reaction (PCR) sequencing was carried out for GPR143 and FRMD7 genes.

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