Identification of mutations by Human Genome sequencing and assembly. Homo sapiens breed:Eukaryotic breed | cultivar:Han Chinese

We have identified a new pathogenic mutation in a Chinese family with congenital nystagmus(CN),the mutation is on the gene GPR143. This functional variant was first detected in CN patients worldwide,which is of great significance for understanding the function of GPR143. The results extended the clinical phenotype spectrum of the mutation of GPR143, and confirmed the role of GPR143 in the pathogenesis of congenital nystagmus, in this family, the mutation may result in congenital nystagmus and significant loss of vision.