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

P Tarpey; S Thomas; N Sarvananthan; U Mallya; S Lisgo; CJ Talbot; EO Roberts; M Awan; M Surendran; RJ McLean; RD Reinwcke; A Langmann; S Lindner; M Koch; S Jain; G Woodruff; RP Gale; C Degg; K Droutsas; I Asproudis; AA Zubcov; C Pieh; CD Veal; RD Machado; OC Backhouse; L Baumber; CS Constantinescu; MC Brodsky; DG Hunter; RW Hertle; RJ Read; S Edkins; S O'Meara; A Parker; C Stevens; J Teague; R Wooster; PA Futreal; RC Trembath; MR Stratton; FL Raymond; I Gottlob

doi:10.1038/ng1893

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

P Tarpey, S Thomas, N Sarvananthan, U Mallya, S Lisgo, CJ Talbot, EO Roberts, M Awan, M Surendran, RJ McLean, RD Reinwcke, A Langmann, S Lindner, M Koch, S Jain, G Woodruff, RP Gale, C Degg, K Droutsas, I AsproudisAA Zubcov, C Pieh, CD Veal, RD Machado, OC Backhouse, L Baumber, CS Constantinescu, MC Brodsky, DG Hunter, RW Hertle, RJ Read, S Edkins, S O'Meara, A Parker, C Stevens, J Teague, R Wooster, PA Futreal, RC Trembath, MR Stratton, FL Raymond, I Gottlob

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

164 Citations (Scopus)

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

Access to Document

10.1038/ng1893

Cite this

Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, CJ., Roberts, EO., Awan, M., Surendran, M., McLean, RJ., Reinwcke, RD., Langmann, A., Lindner, S., Koch, M., Jain, S., Woodruff, G., Gale, RP., 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

@article{707b1a0647de4031ab3394848af3a98c,

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 = "P Tarpey and S Thomas and N Sarvananthan and U Mallya and S Lisgo and CJ Talbot and EO Roberts and M Awan and M Surendran and RJ McLean and RD Reinwcke and A Langmann and S Lindner and M Koch and S Jain and G Woodruff and RP Gale and C Degg and K Droutsas and I Asproudis and AA Zubcov and C Pieh and CD Veal and RD Machado and OC Backhouse and L Baumber and CS Constantinescu and MC Brodsky and DG Hunter and RW Hertle and RJ Read and S Edkins and S O'Meara and A Parker and C Stevens and J Teague and R Wooster and PA Futreal and RC Trembath and MR Stratton and FL Raymond and I Gottlob",

year = "2006",

month = nov,

day = "23",

doi = "10.1038/ng1893",

language = "English",

volume = "38",

pages = "1242 -- 1244",

journal = "Nature Genetics",

issn = "1546-1718",

publisher = "Nature Research",

number = "11",

}

Tarpey, P, Thomas, S, Sarvananthan, N, Mallya, U, Lisgo, S, Talbot, CJ, Roberts, EO, Awan, M, Surendran, M, McLean, RJ, Reinwcke, 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

TY - JOUR

T1 - Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

AU - Tarpey, P

AU - Thomas, S

AU - Sarvananthan, N

AU - Mallya, U

AU - Lisgo, S

AU - Talbot, CJ

AU - Roberts, EO

AU - Awan, M

AU - Surendran, M

AU - McLean, RJ

AU - Reinwcke, RD

AU - Langmann, A

AU - Lindner, S

AU - Koch, M

AU - Jain, S

AU - Woodruff, G

AU - Gale, RP

AU - Degg, C

AU - Droutsas, K

AU - Asproudis, I

AU - Zubcov, AA

AU - Pieh, C

AU - Veal, CD

AU - Machado, RD

AU - Backhouse, OC

AU - Baumber, L

AU - Constantinescu, CS

AU - Brodsky, MC

AU - Hunter, DG

AU - Hertle, RW

AU - Read, RJ

AU - Edkins, S

AU - O'Meara, S

AU - Parker, A

AU - Stevens, C

AU - Teague, J

AU - Wooster, R

AU - Futreal, PA

AU - Trembath, RC

AU - Stratton, MR

AU - Raymond, FL

AU - Gottlob, I

PY - 2006/11/23

Y1 - 2006/11/23

N2 - 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

AB - 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

U2 - 10.1038/ng1893

DO - 10.1038/ng1893

M3 - Article

SN - 1546-1718

VL - 38

SP - 1242

EP - 1244

JO - Nature Genetics

JF - Nature Genetics

IS - 11

ER -

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

Abstract

Access to Document

Fingerprint

Cite this