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Dysregulation of FOXG1 pathway in a 14q12 microdeletion case

Authors

  • Olivier Perche,

    1. UMR7355, CNRS, Orleans, France
    2. Experimental and Molecular Immunology and Neurogenetics, University of Orleans, Orleans, France
    3. Genetic Department, Regional Hospital, Orleans, France
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  • Georges Haddad,

    1. Genetic Department, Hospital of Blois, Mail Pierre Charlot, Blois, France
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  • Arnaud Menuet,

    1. UMR7355, CNRS, Orleans, France
    2. Experimental and Molecular Immunology and Neurogenetics, University of Orleans, Orleans, France
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  • Patrick Callier,

    1. Cytogenetics Department, CHU de Dijon, Plateau technique de biologie, Dijon Cedex, France
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  • Mélanie Marcos,

    1. UMR7355, CNRS, Orleans, France
    2. Experimental and Molecular Immunology and Neurogenetics, University of Orleans, Orleans, France
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  • Sylvain Briault,

    1. UMR7355, CNRS, Orleans, France
    2. Experimental and Molecular Immunology and Neurogenetics, University of Orleans, Orleans, France
    3. Genetic Department, Regional Hospital, Orleans, France
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  • Béatrice Laudier

    Corresponding author
    1. UMR7355, CNRS, Orleans, France
    2. Experimental and Molecular Immunology and Neurogenetics, University of Orleans, Orleans, France
    3. Genetic Department, Regional Hospital, Orleans, France
    • Correspondence to: Béatrice Laudier, M.D., Genetic Department, Regional Hospital, 14 Avenue de l'Hôpital, 45100 Orleans, France. UMR7355, CNRS, Orleans, France.

      E-mail: beatrice.laudier@cnrs-orleans.fr

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  • Conflict of interest: The authors declare no conflict of interest.

Abstract

FOXG1 syndrome” includes postnatal microcephaly, severe intellectual disability with absence of language and agenesis of the corpus callosum. When the syndrome is associated with large 14q12q13 deletions, the patients present characteristic facial dysmorphism. Although all reports were based on genomic analysis, recently a FOXG1 regulatory elements deletion, associated with down regulated mRNA, suggested an implication of FOXG1 pathway. Herein, we report on a young boy with a phenotype consistent with a FOXG1 syndrome. He had a de novo translocation t(6;14)(q22.1;q12) associated with a heterozygous 14q12.2q13 deletion encompassing FOXG1. Subsequently, we investigated his transcriptomic profile on lymphoblastoïd cell lines and/or fibroblasts and showed that FOXG1 was commonly down-regulated. Moreover, several other FOXG1 pathway genes were also disturbed. Our data and review of previous reports highlight dysregulation of FOXG1 pathway as the cause of the “FOXG1 syndrome” developmental disorder. © 2013 Wiley Periodicals, Inc.

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