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

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.

SUBMITTER: Tarpey P 

PROVIDER: S-EPMC2592600 | biostudies-literature | 2006 Nov

REPOSITORIES: biostudies-literature

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

Tarpey Patrick P   Thomas Shery S   Sarvananthan Nagini N   Mallya Uma U   Lisgo Steven S   Talbot Chris J CJ   Roberts Eryl O EO   Awan Musarat M   Surendran Mylvaganam M   McLean Rebecca J RJ   Reinecke Robert D RD   Langmann Andrea A   Lindner Susanne S   Koch Martina M   Jain Sunila S   Woodruff Geoffrey G   Gale Richard P RP   Bastawrous Andrew A   Degg Chris C   Droutsas Konstantinos K   Asproudis Ioannis I   Zubcov Alina A AA   Pieh Christina C   Veal Colin D CD   Machado Rajiv D RD   Backhouse Oliver C OC   Baumber Laura L   Constantinescu Cris S CS   Brodsky Michael C MC   Hunter David G DG   Hertle Richard W RW   Read Randy J RJ   Edkins Sarah S   O'Meara Sarah S   Parker Adrian A   Stevens Claire C   Teague Jon J   Wooster Richard R   Futreal P Andrew PA   Trembath Richard C RC   Stratton Michael R MR   Raymond F Lucy FL   Gottlob Irene I  

Nature genetics 20061001 11

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  ...[more]

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