Mutations in a novel member of the FERM family, FRMD7 cause X-linked idiopathic congenital nystagmus (NYS1)

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

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

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https://europepmc.org/articles/PMC2592600/

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

Autor: Tarpey P; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK., Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Bastawrous A, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I

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