Abstract
Objective
To screen mutations in FERM domain-containing protein 7 (FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus (XLICN).
Methods
Common ophthalmic data and peripheral blood of two Chinese XLICN families (families A and B) were collected after informed consent. Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls. Mutations in the FRMD7 gene were determined by directly sequencing polymerase chain reaction (PCR) products.
Results
We identified a novel mutation c.980_983delATTA compound with c.986C>A mutation in the 11th exon of FRMD7 in family B, and a previously reported splicing mutation c.782G>C (p.R261G) in family A. The mutations were detected in patients and female carriers, while they were absent in other relatives or in the 100 normal controls.
Conclusions
Our results expand the spectrum of FRMD7 mutations in association with XLICN, and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.
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Project supported by the Zhejiang Provincial Science Fund of Health Bureau of China (No. 2012KYA102), the Fundamental Research Funds for the Central Universities (No. 2011FZA7014), the Zhejiang Key Innovation Team Project of China (No. 2009R50039), and the Zhejiang Key Laboratory Fund of China (No. 2011E10006)
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Song, Fw., Chen, Bb., Sun, Zh. et al. Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus. J. Zhejiang Univ. Sci. B 14, 479–486 (2013). https://doi.org/10.1631/jzus.B1200259
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DOI: https://doi.org/10.1631/jzus.B1200259