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Xu Cao, Naihong Yan, Xuan Liao, Yun Wang, Xiaomin Zhou, Yin Yan, Wenhan Yu, Changjun Lan, Xuyang Liu; A Novel Nonsense Mutation (p.y269x) Of The Gpr143 Gene In Chinese Families With X-linked Congenital Nystagmus. Invest. Ophthalmol. Vis. Sci. 2012;53(14):1553.
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Congenital nystagmus (CN) is an inherited disorder characterized by bilateral ocular oscillatory movements. The purpose of this study was to elucidate the molecular genetic defect of X-linked CN in a Chinese family.
Complete ophthalmologic examinations were performed on four patients and some unaffected individuals in this five-generation family. All coding exons of four-point-one (4.1), ezrin, radixin, moesin (FERM) domain-containing 7 (FRMD7) and G protein-coupled receptor 143 (GPR143) genes were amplified by polymerase chain reaction (PCR), sequenced and compared with reference database. Possible changes in structure and function of the protein induced by amino acid variance were predicted by bioinformatics analysis.
Nystagmus was found in all patients of this family, and the cataract was detected in proband. A novel nonsense homozygous mutation c.807T>A in the GPR143 gene was identified in four patients and the heterozygous mutation was found in seven carriers. This mutation causes an amino acid substitution of tyrosine to stop codon at position 269 (p.Y269X) of GPR143 protein. Such change may cause structural and functional changes of the protein based on bioinformatics analysis.
This is the first report that p.Y269X mutation of GPR143 gene occurred in Chinese families with CN, which further support that GPR143 gene mutations are the molecular mechanisms underlying the pathogenesis of CN.
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