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Title: Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
Authors: 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
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
First Published: Nov-2006
Citation: NAT GENET, 2006, 38 (11), pp. 1242-1244
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.
DOI Link: 10.1038/ng1893
ISSN: 1061-4036
Type: Journal Article
Appears in Collections:Published Articles, Dept. of Genetics

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