2. Academic Validation
  3. 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

  • 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

Affiliation

  • 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.

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