Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

Patrick Tarpey, Shery Thomas, Nagini Sarvananthan, Uma Mallya, Steven Lisgo, Chris J. Talbot, Eryl O. Roberts, Musarat Awan, Mylvaganam Surendran, Rebecca J. McLean, Robert D. Reinecke, Andrea Langmann, Susanne Lindner, Martina Koch, Sunila Jain, Geoffrey Woodruff, Richard P. Gale, Chris Degg, Konstantinos Droutsas, Ioannis AsproudisAlina A. Zubcov, Christina Pieh, Colin D. Veal, Rajiv D. MacHado, Oliver C. Backhouse, Laura Baumber, Cris S. Constantinescu, Michael C. Brodsky, David G. Hunter, Richard W. Hertle, Randy J. Read, Sarah Edkins, Sarah O'Meara, Adrian Parker, Claire Stevens, Jon Teague, Richard Wooster, P. Andrew Futreal, Richard C. Trembath, Michael R. Stratton, F. Lucy Raymond, Irene Gottlob

Research output: Contribution to journalArticle

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Abstract

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.

Original languageEnglish (US)
Pages (from-to)1242-1244
Number of pages3
JournalNature Genetics
Volume38
Issue number11
DOIs
StatePublished - Nov 23 2006

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ASJC Scopus subject areas

  • Genetics

Cite this

Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., Lindner, S., Koch, M., Jain, S., Woodruff, G., Gale, R. P., Degg, C., Droutsas, K., ... Gottlob, I. (2006). Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nature Genetics, 38(11), 1242-1244. https://doi.org/10.1038/ng1893