CRB1 mutations in inherited retinal dystrophies

Authors

  • Kinga Bujakowska,

    1. INSERM, U968, Paris, France
    2. CNRS, UMR_7210, Paris, France
    3. UPMC Univ Paris 06, UMR_S 968, Department of Genetics, Institut de la Vision, Paris, France
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  • Isabelle Audo,

    Corresponding author
    1. INSERM, U968, Paris, France
    2. CNRS, UMR_7210, Paris, France
    3. UPMC Univ Paris 06, UMR_S 968, Department of Genetics, Institut de la Vision, Paris, France
    4. Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, Paris, France
    5. UCL-Institute of Ophthalmology, London, United Kingdom
    • Isabelle Audo, Department of Genetics, Institut de la Vision, 17, Rue Moreau, 75012 Paris, France.

      Christina Zeitz, Department of Genetics, Institut de la Vision, 17, Rue Moreau, 75012 Paris, France.

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  • Saddek Mohand-Saïd,

    1. INSERM, U968, Paris, France
    2. CNRS, UMR_7210, Paris, France
    3. UPMC Univ Paris 06, UMR_S 968, Department of Genetics, Institut de la Vision, Paris, France
    4. Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, Paris, France
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  • Marie-Elise Lancelot,

    1. INSERM, U968, Paris, France
    2. CNRS, UMR_7210, Paris, France
    3. UPMC Univ Paris 06, UMR_S 968, Department of Genetics, Institut de la Vision, Paris, France
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  • Aline Antonio,

    1. INSERM, U968, Paris, France
    2. CNRS, UMR_7210, Paris, France
    3. UPMC Univ Paris 06, UMR_S 968, Department of Genetics, Institut de la Vision, Paris, France
    4. Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, Paris, France
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  • Aurore Germain,

    1. INSERM, U968, Paris, France
    2. CNRS, UMR_7210, Paris, France
    3. UPMC Univ Paris 06, UMR_S 968, Department of Genetics, Institut de la Vision, Paris, France
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  • Thierry Léveillard,

    1. INSERM, U968, Paris, France
    2. CNRS, UMR_7210, Paris, France
    3. UPMC Univ Paris 06, UMR_S 968, Department of Genetics, Institut de la Vision, Paris, France
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  • Mélanie Letexier,

    1. IntegraGen SA, Genopole CAMPUS 1 bat G8 FR-91030 Evry, France
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  • Jean-Paul Saraiva,

    1. IntegraGen SA, Genopole CAMPUS 1 bat G8 FR-91030 Evry, France
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  • Christine Lonjou,

    1. Plateforme Post-génomique P3S, Hôpital Pitié Salpêtrière, Paris, France
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  • Wassila Carpentier,

    1. Plateforme Post-génomique P3S, Hôpital Pitié Salpêtrière, Paris, France
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  • José-Alain Sahel,

    1. INSERM, U968, Paris, France
    2. CNRS, UMR_7210, Paris, France
    3. UPMC Univ Paris 06, UMR_S 968, Department of Genetics, Institut de la Vision, Paris, France
    4. Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, Paris, France
    5. UCL-Institute of Ophthalmology, London, United Kingdom
    6. Fondation Ophtalmologique Adolphe de Rothschild, Paris, France
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  • Shomi S. Bhattacharya,

    1. INSERM, U968, Paris, France
    2. CNRS, UMR_7210, Paris, France
    3. UPMC Univ Paris 06, UMR_S 968, Department of Genetics, Institut de la Vision, Paris, France
    4. UCL-Institute of Ophthalmology, London, United Kingdom
    5. Department of Cellular Therapy and Regenerative Medicine, Andalusian Centre for Molecular Biology and Regenerative Medicine (CABIMER), Isla Cartuja, Seville, Spain
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  • Christina Zeitz

    Corresponding author
    1. INSERM, U968, Paris, France
    2. CNRS, UMR_7210, Paris, France
    3. UPMC Univ Paris 06, UMR_S 968, Department of Genetics, Institut de la Vision, Paris, France
    • Isabelle Audo, Department of Genetics, Institut de la Vision, 17, Rue Moreau, 75012 Paris, France.

      Christina Zeitz, Department of Genetics, Institut de la Vision, 17, Rue Moreau, 75012 Paris, France.

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  • Communicated by Daniel F. Schorderet

Abstract

Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod–cone dystrophy, also called retinitis pigmentosa (RP). Moreover, retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features: preservation of the para-arteriolar retinal pigment epithelium (PPRPE) and retinal telangiectasia with exudation (also referred to as Coats-like vasculopathy). In this publication, we report seven novel mutations and classify over 150 reported CRB1 sequence variants that were found in more that 240 patients. The data from previous reports were used to analyze a potential correlation between CRB1 variants and the clinical features of respective patients. This meta-analysis suggests that the differential phenotype of patients with CRB1 mutations is due to additional modifying factors rather than particular mutant allele combination. Hum Mutat 33:306–315, 2012. © 2011 Wiley Periodicals, Inc.

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