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

Nature Genetics volume 38, pages 1242–1244 (2006)Cite this article

A Corrigendum to this article was published on 28 June 2011

This article has been updated

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.

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Figure 1: Refinement of the linkage interval to Xq26 and the pattern of expression of FRMD7 in brain of human embryos ∼56 d.p.o. by in situ hybridization.

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GenBank/EMBL/DDBJ

Protein Data Bank

Change history

  • 06 June 2011

    In the version of this article initially published, the author Andrew Bastawrous was omitted from the author list. The error has been corrected in the HTML and PDF versions of the article.

References

  1. Stayte, M., Reeves, B. & Wortham, C. Br. J. Ophthalmol. 77, 228–232 (1993).

    Article  CAS  Google Scholar 

  2. Pilling, R.F., Thompson, J.R. & Gottlob, I. Br. J. Ophthalmol. 89, 1278–1281 (2005).

    Article  CAS  Google Scholar 

  3. Jacobs, J.B. & Dell'Osso, L.F. J. Vis. 4, 604–625 (2004).

    Article  Google Scholar 

  4. Gottlob, I.Nystagmus. Curr. Opin. Ophthalmol. 12, 378–383 (2001).

    Article  CAS  Google Scholar 

  5. Kerrison, J.B., Vagefi, M.R., Barmada, M.M. & Maumenee, I.H. Am. J. Hum. Genet. 64, 600–607 (1999).

    Article  CAS  Google Scholar 

  6. Kerrison, J.B., Giorda, R., Lenart, T.D., Drack, A.V. & Maumenee, I.H. Ophthalmic Genet. 22, 241–248 (2001).

    Article  CAS  Google Scholar 

  7. Zhang, B. et al. Hum. Genet. 116, 128–131 (2005).

    Article  CAS  Google Scholar 

  8. Cabot, A. et al. Am. J. Hum. Genet. 64, 1141–1146 (1999).

    Article  CAS  Google Scholar 

  9. Tarpey, P. et al. Am. J. Hum. Genet. 75, 318–324 (2004).

    Article  CAS  Google Scholar 

  10. Berman, H., Henrick, K. & Nakamura, H. Nat. Struct. Biol. 10, 980 (2003).

    Article  CAS  Google Scholar 

  11. Han, B.G., Nunomura, W., Takakuwa, Y., Mohandas, N. & Jap, B.K. Nat. Struct. Biol. 7, 871–875 (2000).

    Article  CAS  Google Scholar 

  12. Emsley, P. & Cowtan, K. Acta Crystallogr. D Biol. Crystallogr. 60, 2126–2132 (2004).

    Article  Google Scholar 

  13. Kubo, T. et al. J. Neurosci. 22, 8504–8513 (2002).

    Article  CAS  Google Scholar 

  14. Toyofuku, T. et al. Nat. Neurosci. 8, 1712–1719 (2005).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

This project was funded by the Wellcome Trust, Medisearch Leicester and The Ulverscroft Foundation. The human embryonic material was provided by the Joint MRC-Wellcome Trust Human Developmental Biology Resource at the Institute of Human Genetics, Newcastle upon Tyne, UK (http://www.hdbr.org).

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Author notes

  1. Patrick Tarpey and Shery Thomas: These authors contributed equally to this work.

Authors and Affiliations

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

    Patrick Tarpey, Sarah Edkins, Sarah O'Meara, Adrian Parker, Claire Stevens, Jon Teague, Richard Wooster, P Andrew Futreal & Michael R Stratton

  2. Ophthalmology Group, School of Medicine, University of Leicester, PO Box 65, Leicester, LE2 7LX, UK

    Shery Thomas, Nagini Sarvananthan, Eryl O Roberts, Musarat Awan, Mylvaganam Surendran, Rebecca J McLean, Geoffrey Woodruff & Irene Gottlob

  3. Cambridge Institute for Medical Research, Addenbrookes Hospital, Cambridge, CB2 2XY, UK

    Uma Mallya, Randy J Read & F Lucy Raymond

  4. Institute of Human Genetics, International Centre for Life, Newcastle University, Newcastle upon Tyne, NE1 7RU, UK

    Steven Lisgo

  5. Department of Genetics, University of Leicester, University Road, Leicester, LE1 7RH, UK

    Chris J Talbot, Colin D Veal & Laura Baumber

  6. Foerderer Eye Movement Centre for Children, Wills Eye Hospital, Philadelphia, 19107, Pennsylvania, USA

    Robert D Reinecke

  7. Department of Ophthalmology, Medical University Graz, Auenbruggerplatz 4, Graz, 8036, Austria

    Andrea Langmann, Susanne Lindner & Martina Koch

  8. Royal Preston Hospital, Sharoe Green Lane North, Fulwood, Preston, PR2 9HT, Lancashire, UK

    Sunila Jain

  9. Department of Ophthalmology, Leeds General Infirmary, Leeds, LS2 9NS, UK

    Richard P Gale, Andrew Bastawrous & Oliver C Backhouse

  10. Department of Medical Physics, University Hospitals of Leicester, Leicester, LE1 5WW, UK

    Chris Degg

  11. Department of Ophthalmology, Justus-Liebig-University, Giessen, 35392, Germany

    Konstantinos Droutsas

  12. Department of Ophthalmology, Medical Faculty, University Hospital of Ioannina, Ioannina, 45110, Greece

    Ioannis Asproudis

  13. University Eye Hospital, Johann-Wolfgang-Goethe-Universität, Theodor-Stern-Kai 7, Frankfurt/Main, 60590, Germany

    Alina A Zubcov

  14. Ginnheimer Hohl 6, Frankfurt/Main, 60431, Germany

    Alina A Zubcov

  15. Ophthalmology Department, University of Freiburg, Freiburg, Germany

    Christina Pieh

  16. Division of Genetics and Molecular Medicine, King's College, London, SE1 9RT, UK

    Rajiv D Machado, Laura Baumber & Richard C Trembath

  17. Division of Clinical Neurology, School of Medical and Surgical Sciences, University of Nottingham, Nottingham, NG7 2UH, UK

    Cris S Constantinescu

  18. Departments of Ophthalmology and Pediatrics, University of Arkansas for Medical Sciences, Little Rock, 72202, Arkansas, USA

    Michael C Brodsky

  19. Department of Ophthalmology, Children's Hospital Boston, Harvard Medical School, Boston, 02115, Massachusetts, USA

    David G Hunter

  20. Division of Paediatric Ophthalmology, University of Pittsburgh Medical Centre, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, 15213, Pennsylvania, USA

    Richard W Hertle

Authors
  1. Patrick Tarpey
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  2. Shery Thomas
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  3. Nagini Sarvananthan
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  4. Uma Mallya
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  5. Steven Lisgo
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  6. Chris J Talbot
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  7. Eryl O Roberts
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  8. Musarat Awan
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  9. Mylvaganam Surendran
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  10. Rebecca J McLean
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  11. Robert D Reinecke
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  12. Andrea Langmann
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  13. Susanne Lindner
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  14. Martina Koch
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  15. Sunila Jain
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  16. Geoffrey Woodruff
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  17. Richard P Gale
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  18. Andrew Bastawrous
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  19. Chris Degg
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  20. Konstantinos Droutsas
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  21. Ioannis Asproudis
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  22. Alina A Zubcov
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  23. Christina Pieh
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  24. Colin D Veal
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  25. Rajiv D Machado
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  26. Oliver C Backhouse
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  27. Laura Baumber
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  28. Cris S Constantinescu
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  29. Michael C Brodsky
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  30. David G Hunter
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  31. Richard W Hertle
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  32. Randy J Read
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  33. Sarah Edkins
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  34. Sarah O'Meara
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  35. Adrian Parker
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  36. Claire Stevens
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  37. Jon Teague
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  38. Richard Wooster
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  39. P Andrew Futreal
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  40. Richard C Trembath
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  41. Michael R Stratton
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  42. F Lucy Raymond
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  43. Irene Gottlob
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Contributions

This study was designed by A.B., I.G., R.C.T., F.L.R., M.R.S., S.T. and N.S.; phenotype assessment was performed by I.G., S.T., N.S., E.O.R., M.A., M.S., R.J.M., R.D.R., A.L., S.L., M.K., G.W., R.P.G., C.D., K.D., I.A., A.A.Z., C.P., O.C.B., S.J., M.C.B., D.G.H. and R.W.H.; DNA extraction, linkage analysis, sequencing, in situ hybridization and molecular modeling were performed by F.L.R., P.T., S.T., R.C.T., U.M., S.L., C.J.T., E.O.R., M.S., C.D.V., R.D.M., L.B., C.S.C., R.J.R., S.E., S.O., A.P., C.S., J.T., R.W. and P.A.F. and the paper was written by F.L.R., I.G., P.T., M.R.S. and S.T.

Corresponding authors

Correspondence to F Lucy Raymond or Irene Gottlob.

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Competing interests

The authors declare no competing financial interests.

Supplementary information

Supplementary Fig. 1

Pedigrees N2–N16 showing number and gender of affected individuals who showed linkage to Xq26–27. (PDF 72 kb)

Supplementary Fig. 2

Eye movement recording in family N1. (PDF 380 kb)

Supplementary Fig. 3

Location of mutations in FRMD7 relative to the B41 and FERM-C domains and the effect of mutations in families N5 and N7. (PDF 169 kb)

Supplementary Table 1

Primer sequences. (PDF 29 kb)

Supplementary Video 1

Eye movement in older brother from family N1. Nystagmus is pronounced in the primary gaze. (WMV 1862 kb)

Supplementary Video 2

Eye movement in younger brother from family N1. Nystagmus is visible only on side gaze. (WMV 2924 kb)

Supplementary Video 3

Eye movement in mother from familiy N1. Nystagmus is absent. (WMV 2002 kb)

Supplementary Methods (PDF 51 kb)

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Tarpey, P., Thomas, S., Sarvananthan, N. et al. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet 38, 1242–1244 (2006). https://doi.org/10.1038/ng1893

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