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Open Access
Peer-reviewed
Research Article
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy
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Cécile Méjécase,
Affiliation Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France
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Caroline Laurent-Coriat,
Affiliation CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France
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Claudine Mayer,
Affiliations Institut Pasteur, Paris, France, CNRS, UMR 3528, Paris, France, Université Paris Diderot, Sorbonne Paris Cité, Paris, France
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Olivier Poch,
Affiliation Université de Strasbourg CNRS-Icube, UMR 7357, LBGI, Faculté de Médecine, Strasbourg, France
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Saddek Mohand-Saïd,
Affiliations Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France, CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France
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Camille Prévot,
Affiliations CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France
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Aline Antonio,
Affiliations Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France, CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France
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Fiona Boyard,
Affiliation Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France
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Christel Condroyer,
Affiliation Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France
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Christelle Michiels,
Affiliation Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France
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Steven Blanchard,
Affiliation IntegraGen SA, Genopole, Campus, Evry, Paris, France
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Mélanie Letexier,
Affiliation IntegraGen SA, Genopole, Campus, Evry, Paris, France
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Jean-Paul Saraiva,
Affiliation IntegraGen SA, Genopole, Campus, Evry, Paris, France
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José-Alain Sahel,
Affiliations Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France, CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France, Institute of Ophthalmology, University College of London, London, United Kingdom, Academie des Sciences, Institut de France, Paris, France
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Isabelle Audo ,
Contributed equally to this work with: Isabelle Audo, Christina Zeitz
* E-mail: Isabelle.audo@inserm.fr (IA); Christina.zeitz@inserm.fr (CZ)
Affiliations Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France, CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France, Institute of Ophthalmology, University College of London, London, United Kingdom
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Christina Zeitz
Contributed equally to this work with: Isabelle Audo, Christina Zeitz
* E-mail: Isabelle.audo@inserm.fr (IA); Christina.zeitz@inserm.fr (CZ)
Affiliation Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France
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Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy
- Cécile Méjécase,
- Caroline Laurent-Coriat,
- Claudine Mayer,
- Olivier Poch,
- Saddek Mohand-Saïd,
- Camille Prévot,
- Aline Antonio,
- Fiona Boyard,
- Christel Condroyer,
- Christelle Michiels
- Published: December 15, 2016
- https://doi.org/10.1371/journal.pone.0168271