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