A previously unidentified deletion in G protein-coupled receptor 143 causing Xlinked congenital nystagrrtus in a Chinese family

作者：Liu, Jing; Jia, Yanlei; Wang, Lejin; Bu, Juan^*

来源：Indian Journal of Ophthalmology, 2016, 64(11): 813-817.

DOI：10.4103/0301-4738.195593

• Four-point-one
• ezrin
• radixin
• moesin domain-containing 7 gene
• G protein-coupled receptor 143 gene
• X-linked congenital nystagmus

Background: Congenital nystagmus (CN) is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN. In this study, our aim is to identify the disease-causing ?mutation in a large sixth-generation Chinese family with X-linked CN, Methods: It has been reported that mutations in four-point-one, ezrin, radixin, moesin domain- containing 7 gene (FRMD7) and G protein-coupled receptor 143 gene (GPR143) account for the majority patients of X-linked nystagnms. We collected 8 ml blood samples from members of a large sixth-generation pedigree with X-linked CN and 100 normal controls. FRMD7 and GPR143 were scanned by polymerase chain reaction (PCR)-based DNA sequencing assays, and multiplex PCR assays were applied to detect deletions. Results: We identified a previously unreported deletion covering 7 exons in GPR143 in a Chinese family. The heterozygous deletion from exon 3 to exon 9 of GPR143 was detected in all affected males in the family, while it was not detected in other unaffected relativ-es or 100 normal controls. Conclusions: This is the first report of molecular characterization in GPR143 gene in the CN family. Our results expand the spectrum of GPR143 mutations causing CN and further confirm the role of GPR143 in the pathogenesis of CN.

• 出版日期2016-11
• 单位北京大学