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

Patrick Tarpey ; Shery Thomas ; Nagini Sarvananthan ; Uma Mallya ; Steven Lisgo ; Chris J Talbot ; Eryl O Roberts ; Musarat Awan ; Mylvaganam Surendran ; Rebecca J McLean ; +33 more... 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 ; (2006) Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nature genetics, 38 (11). pp. 1242-1244. ISSN 1061-4036 DOI: 10.1038/ng1893

Copy

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.