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Research Article

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

  • Andrew Orr,

    Affiliations: Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada, Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada

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  • Marie-Pierre Dubé,

    Affiliation: Montreal Heart Institute, University of Montreal, Montreal, Quebec, Canada

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  • Julien Marcadier,

    Affiliation: Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada

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  • Haiyan Jiang,

    Affiliation: Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada

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  • Antonio Federico,

    Affiliation: Dipartimento di Scienze Neurologiche e del Comportamento, Università degli Studi di Siena, Siena, Italy

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  • Stanley George,

    Affiliation: Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada

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  • Christopher Seamone,

    Affiliation: Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada

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  • David Andrews,

    Affiliation: Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada

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  • Paul Dubord,

    Affiliation: Department of Ophthalmology, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada

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  • Simon Holland,

    Affiliation: Department of Ophthalmology, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada

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  • Sylvie Provost,

    Affiliation: Montreal Heart Institute, University of Montreal, Montreal, Quebec, Canada

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  • Vanessa Mongrain,

    Affiliation: Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada

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  • Susan Evans,

    Affiliation: Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada

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  • Brent Higgins,

    Affiliation: Genome Atlantic, National Research Council of Canada Institute of Marine Biology, Halifax, Nova Scotia, Canada

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  • Sharen Bowman,

    Affiliation: Genome Atlantic, National Research Council of Canada Institute of Marine Biology, Halifax, Nova Scotia, Canada

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  • Duane Guernsey,

    Affiliation: Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada

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  • Mark Samuels mail

    To whom correspondence should be addressed. E-mail: mark.e.samuels@umontreal.ca

    Affiliations: Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada, Department of Medicine, University of Montreal, Montreal, Quebec, Canada

    Current address: Department of Medicine, University of Montreal, Montreal, Quebec, Canada

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  • Published: August 01, 2007
  • DOI: 10.1371/journal.pone.0000685

About the Authors

Andrew Orr, Stanley George, Christopher Seamone, David Andrews
Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada
Andrew Orr, Haiyan Jiang, Duane Guernsey, Mark Samuels
Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada
Marie-Pierre Dubé, Sylvie Provost
Montreal Heart Institute, University of Montreal, Montreal, Quebec, Canada
Julien Marcadier, Vanessa Mongrain, Susan Evans
Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
Antonio Federico
Dipartimento di Scienze Neurologiche e del Comportamento, Università degli Studi di Siena, Siena, Italy
Paul Dubord, Simon Holland
Department of Ophthalmology, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada
Brent Higgins, Sharen Bowman
Genome Atlantic, National Research Council of Canada Institute of Marine Biology, Halifax, Nova Scotia, Canada
Mark Samuels
Department of Medicine, University of Montreal, Montreal, Quebec, Canada

Corresponding Author

Email: mark.e.samuels@umontreal.ca

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: MS AO. Performed the experiments: JM VM SE BH SB DG. Analyzed the data: MS AO MD JM HJ SP VM SE BH DG. Contributed reagents/materials/analysis tools: AO AF SG CS DA PD SH. Wrote the paper: MS AO MD DG. Other: Supervised molecular genetics experiments: DG SB. Senior clinical investigator: AC. Senior investigator overseeing all molecular genetic aspects of project: MS.