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Letters
June 2013

De Novo Splice Mutation in the Versican Gene in a Family With Wagner Syndrome

Author Affiliations

Author Affiliations: Institut National de la Santé et de la Recherche Médicale, UMR S872, Centre de Recherche des Cordeliers, Université Paris–Descartes, Sorbonne Paris Cité, Faculté de Médecine (Drs Rothschild and Valleix and Ms Nedelec), Service d’Ophtalmologie, Groupe Hospitalier Cochin–Hôtel-Dieu, Assistance Publique–Hôpitaux de Paris (Drs Rothschild and Brézin), Université Paris–Descartes, Sorbonne Paris Cité, Faculté de Médecine (Drs Rothschild, Brézin, and Valleix), Institut National de la Santé et de la Recherche Médicale, UMRS968, Centre National de la Recherche Scientifique, UMR 7210 (Dr Audo), Université Pierre et Marie Curie Paris, Institut de la Vision (Dr Audo), CMR/CIC 503, Institut National de la Santé et de la Recherche Médicale (Dr Audo) and Service du Professeur Laroche (Dr Monin), Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, and Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Assistance Publique–Hôpitaux de Paris (Ms Ghiotti and Dr Valleix), Paris, France; and Department of Molecular Genetics, Institute of Ophthalmology, London, England (Dr Audo).

JAMA Ophthalmol. 2013;131(6):805-807. doi:10.1001/jamaophthalmol.2013.681

Wagner syndrome (WS; OMIM143200) is a rare inherited vitreoretinopathy caused by mutations in the canonical consensus sites of exon 7 or 8 of the versican gene (VCAN), leading to an aberrant imbalance of its 4 encoded isoforms.13 Although this ocular disorder is clinically very heterogeneous, it is characterized by an optically empty vitreous with no systemic features.1 Only a limited number of families with WS have had the WS confirmed at the molecular level, but all WS-associated VCAN mutations have been shown, until now, to be transmitted through several generations as an autosomal dominant trait with complete penetrance.4

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