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

  • Nat Genet. 2006 Nov;38(11):1242-4. doi: 10.1038/ng1893.
Patrick Tarpey  1 ,  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
Affiliations
  • 1. Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
PMID: 17013395 DOI: 10.1038/ng1893
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.