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Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy |
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| Authors: | James A Poulter David F Gilmour Hiroyuki Kondo David A Mackey Lisa S Kearns Jamie E Craig Louise M Downey Moin D Mohamed Chris F Inglehearn |
| Institution: | 1 Leeds Institute of Molecular Medicine, St. James's University Hospital, Leeds LS9 7TF, UK 2 Department of Ophthalmology, Fukuoka University School of Medicine, Fukuoka, Japan 814-0180 3 Division of Genome Analysis, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan 812-8582 4 Lions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, Australia 6009 5 Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Melbourne, Australia 3002 6 Department of Ophthalmology, Flinders Medical Centre, Adelaide, Australia 5042 7 F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA 8 Department of Ophthalmology, Hull Royal Infirmary, Hull HU3 2JZ, UK 9 Department of Ophthalmology, St Thomas' Hospital, London SE1 7EH, UK |
| Abstract: | Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Although mutations in three genes (LRP5, FZD4, and NDP) are known to cause FEVR, these account for only a fraction of FEVR cases. The proteins encoded by these FEVR genes form part of a signaling complex that activates the Norrin-β-catenin signaling pathway. Recently, through a large-scale reverse genetic screen in mice, Junge and colleagues identified an additional member of this signaling complex, Tspan12. Here, we report that mutations in TSPAN12 also cause autosomal-dominant FEVR. We describe seven mutations identified in a cohort of 70 FEVR patients in whom we had already excluded the known FEVR genes. This study provides further evidence for the importance of the Norrin-β-catenin signaling pathway in the development of the retinal vasculature and also indicates that more FEVR genes remain to be identified. |
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