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

Patrick Tarpey; Shery Thomas; Nagini Sarvananthan; Uma Mallya; Steven Lisgo; Chris J. Talbot; Eryl O. Roberts; Musarat Awan; Mylvaganam Surendran; Rebecca J. McLean; Robert D. Reinecke; Andrea Langmann; Susanne Lindner; Martina Koch; Sunila Jain; Geoffrey Woodruff; Richard P. Gale; Chris Degg; Konstantinos Droutsas; Ioannis Asproudis; Alina A. Zubcov; Christina Pieh; Colin D. Veal; Rajiv D. MacHado; Oliver C. Backhouse; Laura Baumber; Cris S. Constantinescu; Michael C. Brodsky; David G. Hunter; Richard W. Hertle; Randy J. Read; Sarah Edkins; Sarah O'Meara; Adrian Parker; Claire Stevens; Jon Teague; Richard Wooster; P. Andrew Futreal; Richard C. Trembath; Michael R. Stratton; F. Lucy Raymond; Irene Gottlob

doi:10.1038/ng1893

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

Patrick Tarpey, Shery Thomas, Nagini Sarvananthan, Uma Mallya, Steven Lisgo, Chris J. Talbot, Eryl O. Roberts, Musarat Awan, Mylvaganam Surendran, Rebecca J. McLean, Robert D. Reinecke, Andrea Langmann, Susanne Lindner, Martina Koch, Sunila Jain, Geoffrey Woodruff, Richard P. Gale, Chris Degg, Konstantinos Droutsas, Ioannis AsproudisAlina A. Zubcov, Christina Pieh, Colin D. Veal, Rajiv D. MacHado, Oliver C. Backhouse, Laura Baumber, Cris S. Constantinescu, Michael C. Brodsky, David G. Hunter, Richard W. Hertle, Randy J. Read, Sarah Edkins, Sarah O'Meara, Adrian Parker, Claire Stevens, Jon Teague, Richard Wooster, P. Andrew Futreal, Richard C. Trembath, Michael R. Stratton, F. Lucy Raymond, Irene Gottlob

Ophthalmology

Research output: Contribution to journal › Article › peer-review

124 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1242-1244
Number of pages	3
Journal	Nature Genetics
Volume	38
Issue number	11
DOIs	https://doi.org/10.1038/ng1893
State	Published - Nov 23 2006

ASJC Scopus subject areas

Genetics

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Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., Lindner, S., Koch, M., Jain, S., Woodruff, G., Gale, R. P., Degg, C., Droutsas, K., ... Gottlob, I. (2006). Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nature Genetics, 38(11), 1242-1244. https://doi.org/10.1038/ng1893

Tarpey, P, Thomas, S, Sarvananthan, N, Mallya, U, Lisgo, S, Talbot, CJ, Roberts, EO, Awan, M, Surendran, M, McLean, RJ, Reinecke, RD, Langmann, A, Lindner, S, Koch, M, Jain, S, Woodruff, G, Gale, RP, Degg, C, Droutsas, K, Asproudis, I, Zubcov, AA, Pieh, C, Veal, CD, MacHado, RD, Backhouse, OC, Baumber, L, Constantinescu, CS, Brodsky, MC, Hunter, DG, Hertle, RW, Read, RJ, Edkins, S, O'Meara, S, Parker, A, Stevens, C, Teague, J, Wooster, R, Futreal, PA, Trembath, RC, Stratton, MR, Raymond, FL & Gottlob, I 2006, 'Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus', Nature Genetics, vol. 38, no. 11, pp. 1242-1244. https://doi.org/10.1038/ng1893

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title = "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.",

author = "Patrick Tarpey and Shery Thomas and Nagini Sarvananthan and Uma Mallya and Steven Lisgo and Talbot, {Chris J.} and Roberts, {Eryl O.} and Musarat Awan and Mylvaganam Surendran and McLean, {Rebecca J.} and Reinecke, {Robert D.} and Andrea Langmann and Susanne Lindner and Martina Koch and Sunila Jain and Geoffrey Woodruff and Gale, {Richard P.} and Chris Degg and Konstantinos Droutsas and Ioannis Asproudis and Zubcov, {Alina A.} and Christina Pieh and Veal, {Colin D.} and MacHado, {Rajiv D.} and Backhouse, {Oliver C.} and Laura Baumber and Constantinescu, {Cris S.} and Brodsky, {Michael C.} and Hunter, {David G.} and Hertle, {Richard W.} and Read, {Randy J.} and Sarah Edkins and Sarah O'Meara and Adrian Parker and Claire Stevens and Jon Teague and Richard Wooster and Futreal, {P. Andrew} and Trembath, {Richard C.} and Stratton, {Michael R.} and Raymond, {F. Lucy} and Irene Gottlob",

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AU - Thomas, Shery

AU - Sarvananthan, Nagini

AU - Mallya, Uma

AU - Lisgo, Steven

AU - Talbot, Chris J.

AU - Roberts, Eryl O.

AU - Awan, Musarat

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AU - Reinecke, Robert D.

AU - Langmann, Andrea

AU - Lindner, Susanne

AU - Koch, Martina

AU - Jain, Sunila

AU - Woodruff, Geoffrey

AU - Gale, Richard P.

AU - Degg, Chris

AU - Droutsas, Konstantinos

AU - Asproudis, Ioannis

AU - Zubcov, Alina A.

AU - Pieh, Christina

AU - Veal, Colin D.

AU - MacHado, Rajiv D.

AU - Backhouse, Oliver C.

AU - Baumber, Laura

AU - Constantinescu, Cris S.

AU - Brodsky, Michael C.

AU - Hunter, David G.

AU - Hertle, Richard W.

AU - Read, Randy J.

AU - Edkins, Sarah

AU - O'Meara, Sarah

AU - Parker, Adrian

AU - Stevens, Claire

AU - Teague, Jon

AU - Wooster, Richard

AU - Futreal, P. Andrew

AU - Trembath, Richard C.

AU - Stratton, Michael R.

AU - Raymond, F. Lucy

AU - Gottlob, Irene

PY - 2006/11/23

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

Abstract

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