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

Tarpey, P./ Thomas, S./ Sarvananthan, N./ Mallya, U./ Lisgo, S./ Talbot, C. J./ Roberts, E. O./ Awan, M./ Surendran, M./ McLean, R. J./ Reinecke, R. D./ Langmann, A./ Lindner, S./ Koch, M./ Jain, S./ Woodruff, G./ Gale, R. P./ Bastawrous, A./ Degg, C./ Droutsas, K./ Asproudis, I./ Zubcov, A. A./ Pieh, C./ Veal, C. D./ Machado, R. D./ Backhouse, O. C./ Baumber, L./ Constantinescu, C. S./ Brodsky, M. C./ Hunter, D. G./ Hertle, R. W./ Read, R. J./ Edkins, S./ O'Meara, S./ Parker, A./ Stevens, C./ Teague, J./ Wooster, R./ Futreal, P. A./ Trembath, R. C./ Stratton, M. R./ Raymond, F. L./ 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 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.
Institution and School/Department of submitter: Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής
Keywords: Brain/embryology/metabolism,Chromosome Mapping,Chromosomes, Human, X,Cytoskeletal Proteins/*genetics/physiology,Eye Movements/genetics/physiology,Female,Gene Expression Regulation, Developmental,*Genes, X-Linked,Genetic Linkage,Humans,Male,Membrane Proteins/*genetics/physiology,Mutation/physiology,Nystagmus, Congenital/*genetics,Pedigree,Retina/metabolism
ISSN: 1061-4036
Appears in Collections:Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά)

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