A previously unidentified deletion in G protein‑coupled receptor 143 causing X‑linked congenital nystagmus in a Chinese family.
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Date
2016-11
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Abstract
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 nystagmus. 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 relatives 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.
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Four‑point‑one, ezrin, radixin, moesin domain‑containing 7 gene, G protein‑coupled receptor 143 gene, X‑linked congenital nystagmus
Citation
Liu Jing, Jia Yanlei, Wang Lejin, Bu Juan. A previously unidentified deletion in G protein‑coupled receptor 143 causing X‑linked congenital nystagmus in a Chinese family. Indian Journal of Ophthalmology. 2016 Nov; 64(11): 813-817.