Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
Version 2 2024-03-12, 21:11
Version 1 2024-03-01, 13:02
journal contribution
posted on 2024-03-12, 21:11 authored by Patrick Tarpey, Shery Thomas, Robert D. Reinecke, Andrea Langmann, Susanne Lindner, Martina Koch, Sunila Jain, Geoffrey Woodruff, Richard P. Gale, Andrew Bastawrous, Chris Degg, Konstantinos Droutsas, Nagini Sarvananthan, Ioannis Asproudis, Alina A. Zubcov, Christina Pieh, Colin D. Veal, Rajiv Machado, Oliver C. Backhouse, Laura Baumber, Cris S. Constantinescu, Michael C. Brodsky, David G. Hunter, Uma Mallya, 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, Steven Lisgo, Michael R. Stratton, F. Lucy Raymond, Irene Gottlob, Chris J. Talbot, Eryl O. Roberts, Musarat Awan, Mylvaganam Surendran, Rebecca J. McLean<p>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.</p>
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- Department of Life Sciences (Research Outputs)
