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Nat Genet. 2006 Nov;38(11):1242-4. Epub 2006 Oct 1.

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

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1
Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.

Erratum in

  • Nat Genet. 2011 Jul;43(7):720. Bastawrous, Andrew [added].

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.

PMID:
17013395
PMCID:
PMC2592600
DOI:
10.1038/ng1893
[Indexed for MEDLINE]
Free PMC Article

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