We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
- Authors
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; Gottlob, Irene
- 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.
- Publication
Nature genetics, 2006, Vol 38, Issue 11, p1242
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1893