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

Tarpey, Patrick, Thomas, Shery, Sarvananthan, Nagini, Mallya, Uma, Lisgo, Steven, Talbot, Chris J., Roberts, Eryl O., Awan, Musarat, Surendran, Mylvaganam, McLean, Rebecca J., Reinecke, Robert D., Langmann, Andrea, Lindner, Susanne, Koch, Martina, Jain, Sunila, Woodruff, Geoffrey, Gale, Richard P., Bastawrous, Andrew, Degg, Chris, Droutsas, Konstantinos, Asproudis, Ioannis, Zubcov, Alina A., Pieh, Christina, Veal, Colin D., Machado, Rajiv D., Backhouse, Oliver C., Baumber, Laura, Constantinescu, Cris S., Brodsky, Michael C., Hunter, David G., Hertle, Richard W., Read, Randy J., Edkins, Sarah, O'Meara, Sarah, Parker, Adrian, Stevens, Claire, Teague, Jon, Wooster, Richard, Futreal, P. Andrew, Trembath, Richard C., Stratton, Michael R., Raymond, F. Lucy and Gottlob, Irene (2006) Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nature Genetics, 38 (11). pp. 1242-4. ISSN 1061-4036

Full content URL: http://dx.doi.org/10.1038/ng1893.

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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.

Keywords:FRMD7, Idiopathic congenital nystagmus, Gene identification
Subjects:C Biological Sciences > C431 Medical Genetics
Divisions:College of Science > School of Life Sciences
ID Code:6319
Deposited On:01 Oct 2012 16:35

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