Lincoln Repository

Menu

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

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, Futreal, P. Andrew, Trembath, Richard C., Stratton, Michael R., Raymond, F. Lucy and Gottlob, Irene (2006) Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nature Genetics, 38 (11). pp. 1242-4. ISSN 1061-4036

Full content URL: http://dx.doi.org/10.1038/ng1893.

Documents
Machado_NatGen2006.pdf
  • Format: PDF
  • Repository staff only
  • Size: 189kB
[img] PDF
Machado_NatGen2006.pdf - Whole Document
Restricted to Repository staff only
189kB
Item Type:Article
Item Status:Live Archive

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.

Keywords:FRMD7, Idiopathic congenital nystagmus, Gene identification
Subjects:C Biological Sciences > C431 Medical Genetics
Divisions:College of Science > School of Life Sciences
ID Code:6319
Deposited On:01 Oct 2012 16:35

Repository Staff Only: item control page