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Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability

Authors

  • Sarra Dimassi,

    1. Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France
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  • Joris Andrieux,

    1. Laboratoire de Génétique Médicale, CHRU Lille, Hôpital Jeanne de Flandre, Lille, France
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  • Audrey Labalme,

    1. Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France
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  • Gaétan Lesca,

    1. Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France
    2. CNRL, INSERM U1028, CNRS UMR5292, Université Claude Bernard Lyon 1, Equipe TIGER, Lyon, France
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  • Marie-Pierre Cordier,

    1. Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France
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  • Odile Boute,

    1. Service de Génétique Clinique, CHRU Lille, Hôpital Jeanne de Flandre, Lille, France
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  • Dorothée Neut,

    1. Service de Pédiatrie, CH Boulogne sur Mer, France
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  • Patrick Edery,

    1. Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France
    2. CNRL, INSERM U1028, CNRS UMR5292, Université Claude Bernard Lyon 1, Equipe TIGER, Lyon, France
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  • Damien Sanlaville,

    1. Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France
    2. CNRL, INSERM U1028, CNRS UMR5292, Université Claude Bernard Lyon 1, Equipe TIGER, Lyon, France
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  • Caroline Schluth-Bolard

    Corresponding author
    1. Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France
    2. CNRL, INSERM U1028, CNRS UMR5292, Université Claude Bernard Lyon 1, Equipe TIGER, Lyon, France
    • Correspondence to:

      Dr. Caroline Schluth-Bolard, Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie EST, 59, Boulevard Pinel, 69677 Bron Cedex, France.

      E-mail: caroline.schluth-bolard@chu-lyon.fr

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Abstract

We report on three patients presenting moderate intellectual disability, delayed language acquisition, and mild facial dysmorphia. Array-CGH studies revealed overlapping interstitial 12p13.1 microdeletions encompassing all or part of GRIN2B. GRIN2B encodes the NR2B subunit of the N-methyl-D-aspartate (NMDA) receptor. This receptor is a heteromeric glutamate-activated ion channel, present throughout the central nervous system. It plays a critical role in corticogenesis, neuronal migration, and synaptogenesis during brain development. GRIN2B alterations, including mutation and gene disruption by apparently balanced chromosomal rearrangements, have been described in patients with intellectual disability and autism spectrum disorder. We report here on the first cases of GRIN2B deletion, enlarging the spectrum of GRIN2B abnormalities. Our findings confirm the involvement of this gene in neurodevelopmental disorders. © 2013 Wiley Periodicals, Inc.

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