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

@article{Tarpey2006MutationsIF,
  title={Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus},
  author={P. Tarpey and Shery Thomas and Nagini Sarvananthan and Uma Mallya and Steven Lisgo and Chris J. Talbot and Eryl O. Roberts and Musarat Awan and Mylvaganam Surendran and Rebecca Jane McLean and Robert Reinecke and Andrea Langmann and Susanne Lindner and Martina Koch and Sunila Jain and Geoffrey Neil Woodruff and Richard Peter Gale and Andrew Bastawrous and Chris Degg and Konstantinos Droutsas and Ioannis C Asproudis and Alina A. Zubcov and Christina Pieh and Colin D. Veal and Rajiv D Machado and Oliver C. Backhouse and Laura Baumber and Cris S. Constantinescu and Michael C. Brodsky and D. G. N. Hunter and Richard W. Hertle and Randy J Read and S. Edkins and Sarah O'meara and Adrian Bruce Parker and Claire E. Stevens and J. W. Teague and Richard Wooster and P. Andrew Futreal and Richard C Trembath and Michael R. Stratton and F Lucy Raymond and Irene Gottlob},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={1242-1244}
}
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… CONTINUE READING
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References

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Mutations in FRMD7 and variations in FRMD7 Sample Class Mutation/variation Origin N15 M G70A, G24R Ireland

T Toyofuku
  • Nat. Neurosci
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