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

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

Nature genetics (2006-10-03)

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, Andrew Bastawrous, Chris Degg, Konstantinos Droutsas, Ioannis Asproudis, Alina 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

PMID17013395

摘要

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.