Nature Genetics
- 38, 1242 - 1244 (2006)
Published online: 1 October 2006; | doi:10.1038/ng1893
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmusPatrick Tarpey1, 20, Shery Thomas2, 20, Nagini Sarvananthan2, Uma Mallya3, Steven Lisgo4, Chris J Talbot5, Eryl O Roberts2, Musarat Awan2, Mylvaganam Surendran2, Rebecca J McLean2, Robert D Reinecke6, Andrea Langmann7, Susanne Lindner7, Martina Koch7, Sunila Jain8, Geoffrey Woodruff2, Richard P Gale9, Chris Degg10, Konstantinos Droutsas11, Ioannis Asproudis12, Alina A Zubcov13, Christina Pieh14, Colin D Veal5, Rajiv D Machado15, Oliver C Backhouse9, Laura Baumber5, 15, Cris S Constantinescu16, Michael C Brodsky17, David G Hunter18, Richard W Hertle19, Randy J Read3, Sarah Edkins1, Sarah O'Meara1, Adrian Parker1, Claire Stevens1, Jon Teague1, Richard Wooster1, P Andrew Futreal1, Richard C Trembath15, Michael R Stratton1, F Lucy Raymond3 & Irene Gottlob21
Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK. 2
Ophthalmology Group, School of Medicine, University of Leicester, PO Box 65, Leicester LE2 7LX, UK. 3
Cambridge Institute for Medical Research, Addenbrookes Hospital, Cambridge CB2 2XY, UK. 4
Institute of Human Genetics, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 7RU, UK. 5
Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK. 6
Foerderer Eye Movement Centre for Children, Wills Eye Hospital, Philadelphia, Pennsylvania 19107, USA. 7
Medical University Graz, Department of Ophthalmology, Auenbruggerplatz 4, 8036 Graz, Austria. 8
Royal Preston Hospital, Sharoe Green Lane North, Fulwood, Preston, Lancashire PR2 9HT, UK. 9
Department of Ophthalmology, Leeds General Infirmary, Leeds LS2 9NS, UK. 10
Department of Medical Physics, University Hospitals of Leicester, Leicester LE1 5WW, UK. 11
Department of Ophthalmology, Justus-Liebig-University, 35392 Giessen, Germany. 12
Department of Ophthalmology, Medical Faculty, University Hospital of Ioannina, 45110 Ioannina, Greece. 13
University Eye Hospital, Johann-Wolfgang-Goethe-Universität, Theodor-Stern-Kai 7, 60590 Frankfurt/Main, Germany and Ginnheimer Hohl 6, 60431 Frankfurt/Main, Germany. 14
Ophthalmology Department, University of Freiburg, Freiburg, Germany. 15
Division of Genetics and Molecular Medicine, King's College London SE1 9RT, UK. 16
Division of Clinical Neurology, School of Medical and Surgical Sciences, University of Nottingham, Nottingham NG7 2UH, UK. 17
Departments of Ophthalmology and Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas 72202, USA. 18
Department of Ophthalmology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA. 19
University of Pittsburgh Medical Centre, Division of Paediatric Ophthalmology, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, Pennsylvania 15213, USA. 20
These authors contributed equally to this work.
Correspondence should be addressed to F Lucy Raymond flr24@cam.ac.uk or Irene Gottlob ig15@leicester.ac.uk FRMD7Idiopathic 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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