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

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

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  • 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.

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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).

Author information

Authors and Affiliations

Authors

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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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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