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

作者：Cai, C. Y.; Zhu, H.; Shi, W.; Su, L.; Shi, O.; Cai, C. Q.; Ling, C.; Li, W. D.^*

来源：Genetics and Molecular Research, 2013, 12(4): 5673-5679.

DOI：10.4238/2013.November.18.16

• Ocular albinism
• GPR143
• Congenital nystagmus
• Pedigree
• Han Chinese

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. The three-dimensional structures of the wild-type and mutant GPR143 proteins were determined using SWISS-MODEL. The transmission of the disease in the pedigree clearly followed an X-linked pattern. The proband had significant iris and fundus hypopigmentation. Optical coherence tomography showed severe foveal hypoplasias in both eyes of the proband. A novel splicing site (G/C) mutation was found on the boundary of the 6th intron and the 7th exon of the GPR143 gene, resulting in a 9-amino-acid deletion (codons 257-265) in the 6th transmembrane domain of the GPR143 protein. In conclusion, a novel splicing site mutation of the GPR143 gene was found in a Han Chinese congenital ocular albinism pedigree.

• 出版日期2013
• 单位天津市儿童医院; 天津医科大学