New mutations identified in the ocular albinism type 1 gene

Identification of a Novel Mutation in a Chinese Family with X-Linked Ocular Albinism

“…In this study, we found a p.G315X mutation in exon 8 that is close to the p.Y311X mutation. The p.Y311X mutation is located in a region of the protein within the membrane lipid bilayer, and affects its subcellular localization (12), suggesting a similar effect may exist for the p.G315X mutation. In summary, we have identified a novel mutation in the GPR143 gene in a Chinese family with X-linked ocular al- binism, which will extend the mutational spectrum of GPR143 gene and be useful for gene diagnosis and genetic counseling of OA1.…”

“…It contains nine exons and encodes a 424 amino acids G proteincoupled receptor with seven putative transmembrane domains and one potential glycosylation site at codon Asp106 (6)(7)(8). To date, 88 mutations in the GPR143 gene have been reported in different population groups (9)(10)(11)(12)(13)(14). However, very little is known about the molecular basis of OA1 in Chinese patients.…”

Deep intronic GPR143 mutation in a Japanese family with ocular albinism

“…There is no obvious explanation for this low rate of detecting mutations. The possibility that mutated genes other than GPR143 are responsible for OA1 seems unlikely, because linkage analysis of families without GPR143 mutations point to the OA1 locus (Xp22.3) 5 10 11 12 13 14 . Another possibility is that GPR143 mutations occur outside the coding region or include larger insertions or deletions.…”