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

P Tarpey, S Thomas, N Sarvananthan, U Mallya, S Lisgo, CJ Talbot, EO Roberts, M Awan, M Surendran, RJ McLean, RD Reinwcke, A Langmann, S Lindner, M Koch, S Jain, G Woodruff, RP Gale, C Degg, K Droutsas, I AsproudisAA Zubcov, C Pieh, CD Veal, RD Machado, OC Backhouse, L Baumber, CS Constantinescu, MC Brodsky, DG Hunter, RW Hertle, RJ Read, S Edkins, S O'Meara, A Parker, C Stevens, J Teague, R Wooster, PA Futreal, RC Trembath, MR Stratton, FL Raymond, I Gottlob

Research output: Contribution to journalArticlepeer-review

160 Citations (Scopus)

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
Original languageEnglish
Pages (from-to)1242 - 1244
Number of pages3
JournalNature Genetics
Volume38
Issue number11
DOIs
Publication statusPublished - 23 Nov 2006

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