A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus


PURPOSE To elucidate the molecular genetic defect of X-linked congenital nystagmus in a Chinese family. METHODS Genomic DNA was prepared from peripheral blood. We used allele-sharing analysis to identify the possible locus harboring the disease-causing gene. We screened for mutations in the G protein-coupled receptor 143 gene (GPR143) by direct sequencing… (More)


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