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Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus |
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| 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 |
| Institution: | Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK. |
| 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. |
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