1. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
- Author
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Alina A. Zubcov, Michael C. Brodsky, N. Sarvananthan, Rajiv D. Machado, M. Koch, Richard W. Hertle, Robert D. Reinecke, S. Thomas, Randy J. Read, Claire Stevens, Geoffrey Woodruff, Richard C. Trembath, Sarah O’Meara, Sarah Edkins, Michael R. Stratton, Jon W. Teague, M. Awan, F. Lucy Raymond, Adrian Parker, Steven Lisgo, Ioannis Asproudis, Andrea Langmann, Colin Veal, Richard Wooster, Chris Degg, E.O. Roberts, Susanne Lindner, M. Surendran, S. L. Jain, Cris S. Constantinescu, Christopher J. Talbot, Christina Pieh, Irene Gottlob, Patrick S. Tarpey, Richard P. Gale, Rebecca J. McLean, P. Andrew Futreal, Konstantinos Droutsas, David G. Hunter, Oliver C. Backhouse, L Baumber, and Uma Mallya
- Subjects
Male ,medicine.medical_specialty ,Pathology ,Nystagmus, Congenital/*genetics ,Brain/embryology/metabolism ,genetic structures ,Genetic Linkage ,Eye disease ,Eye Movements/genetics/physiology ,Genes, X-Linked ,Cytoskeletal Proteins/*genetics/physiology ,Nystagmus ,Biology ,Membrane Proteins/*genetics/physiology ,medicine.disease_cause ,03 medical and health sciences ,0302 clinical medicine ,Genetic linkage ,Internal medicine ,Genetics ,medicine ,Humans ,Mutation/physiology ,X chromosome ,030304 developmental biology ,Chromosomes, Human, X ,Retina/metabolism ,0303 health sciences ,Retina ,Mutation ,Chromosome Mapping ,Gene Expression Regulation, Developmental ,Eye movement ,medicine.disease ,eye diseases ,Pedigree ,medicine.anatomical_structure ,Endocrinology ,030221 ophthalmology & optometry ,Female ,medicine.symptom ,Congenital nystagmus - 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. Nat Genet
- Published
- 2006
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