Autism-Open Access
Open Access

Maud Benetti

Publications

• Research Article
  Further Evidence for DLGAP2 as Strong Autism Spectrum Disorders/Intellectual Disability Candidate Gene
  Author(s): Hélène Poquet, Laurence Faivre, Salima El Chehadeh, Jenny Morton, Dominic McMullan, Susan Hamilton, Himanshu Goel, Bertrand Isidor, Cédric Le Caignec, Joris Andrieux, Bruno Delobel, Eva Pipiras, Anne-Claude Tabet, Andrée Delahaye, Loic Depontual, Mathilde Lefebvre, Caroline Jacquot, Alice Masurel, Frédéric Huet, Jean-Michel Pinoit, Vincent Meille, Maud Benetti, Eddy Ponavoy, Jean-Christophe Chauvet-Gelinier, Benoit Trojak, Bernard Bonin, Christine Juif, Anne Collinet de la Salle, Christel Thauvin-Robinet, Nathalie Lagarde, Céline Henry, Nathalie Marle, Patrick Callier and Anne-Laure Mosca-BoidronHélène Poquet, Laurence Faivre, Salima El Chehadeh, Jenny Morton, Dominic McMullan, Susan Hamilton, Himanshu Goel, Bertrand Isidor, Cédric Le Caignec, Joris Andrieux, Bruno Delobel, Eva Pipiras, Anne-Claude Tabet, Andrée Delahaye, Loic Depontual, Mathilde Lefebvre, Caroline Jacquot, Alice Masurel, Frédéric Huet, Jean-Michel Pinoit, Vincent Meille, Maud Benetti, Eddy Ponavoy, Jean-Christophe Chauvet-Gelinier, Benoit Trojak, Bernard Bonin, Christine Juif, Anne Collinet de la Salle, Christel Thauvin-Robinet, Nathalie Lagarde, Céline Henry, Nathalie Marle, Patrick Callier and Anne-Laure Mosca-Boidron
  
  Autism spectrum disorders are classified as neurodevelopmental disorders characterised by diminished social communication and interaction. The core symptoms typically coexist with other medical conditions such as intellectual disability. The involvement of rare copy number variations of varying expressivity and penetrance as risk factors in autism spectrum disorders/intellectual disability phenotypes has been highlighted in large series. The DLGAP2 gene, whose glutamatergic postsynaptic density product may play a role in synaptogenesis and plasticity, has been identified as a novel candidate on the basis of 2 de novo duplications in sporadic non-syndromic autism spectrum disorders/intellectual disability males. It has also been suggested that increased DLGAP2 gene expression may contribute to the pathogenesis of schizophrenia spectrum disorders. Based on these result.. View More»
  DOI: 10.4172/2165-7890.1000197

  Abstract PDF

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