Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism

摘要

Purpose: There are few genetic studiesand clinical descriptions of Asian patients with X-linked ocularalbinism (OA1). In the present study, the mutation analysis of Gprotein-coupled receptor 143 gene (GPR143) and clinicalcharacteristics were assessed in Chinese patients with OA1. Methods: Six families with OA1 wererecruited from our pediatric and genetic eye clinic. Genomic DNA wasprepared from venous leukocytes. The coding regions of GPR143were amplified by polymerase chain reaction, and subsequently analyzedby direct sequencing. The variations detected were further evaluated inavailable family members as well as controls. Results: Mutations in GPR143were identified in each of the six families: c.849delT(p.Val284SerfsX15); c.238_240delCTC (p.Leu80del); c.658+1GA,c.353GA (p.Gly118Glu); g.1103_7266del6164 (p.Gly84AlafsX65), whichresulted in a deletion of exons 2 and 3; and g.25985_26546del562(p.Gly296ValfsX26), which resulted in a deletion of exon 8. Of thesesix, c.353GA is a known mutation, while the other five are novel.All affected patients had nystagmus, poor visual acuity, and fovealhypoplasia. However, hypopigmentation of the iris and fundus was verymild in these patients. Conclusions: Five novel mutations andone known mutation were identified in six Chinese families with OA1.These results expand the mutation spectrum of GPR143, anddemonstrate the clinical characteristics of OA1 among the Chinese.