alexa Further Evidence for Dlgap2 as Strong Autism Spectrum Disorders/Intellectual Disability Candidate Gene | OMICS International | Abstract
ISSN: 2165-7890

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Research Article

Further Evidence for Dlgap2 as Strong Autism Spectrum Disorders/Intellectual Disability Candidate Gene

Hélène Poquet1,2,3, Laurence Faivre1,3,4#, Salima El Chehadeh1,3,4, Jenny Morton5, Dominic McMullan5, Susan Hamilton5, Himanshu Goel6, Bertrand Isidor7, Cédric Le Caignec7, Joris Andrieux8, Bruno Delobel9, Eva Pipiras10, Andrée Delahaye10, Loic Depontual11, Mathilde Lefebvre1,3,4, Caroline Jacquot1,4, Alice Masurel1,3,4, Frédéric Huet1,3,4, Jean-Michel Pinoit2, Vincent Meille12, aud Benetti12, Eddy Ponavoy12, Jean-Christophe Chauvet-Gelinier12, Benoit Trojak12, Bernard Bonin12, Christine Juif13, Anne Collinet de la Salle13, Christel Thauvin-Robinet1,3,4, Nathalie Lagarde13, Céline Henry2,13, Nathalie Marle3,4,14, Patrick Callier3,4,14and Anne-Laure Mosca-Boidron3,4,14*

1Centre de Génétique et Centre de Référence Maladies Rares ‘Anomalies du Développement et Syndromes Malformatifs de l’Interrégion Est’, Hôpital d’Enfants, CHU Dijon, France

2Service de Pédopsychiatrie, Hôpital d’Enfants, CHU Dijon, France

3EA 4271 GAD Génétique des Anomalies du Développement, IFR 100–Santé STIC, Université de Bourgogne, Dijon, France

4FHU TRANSLAD, CHU de Dijon et Université de Bourgogne-Franche Comté, Dijon, France

5Regional Genetics Department, Birmingham Women's Hospital, Edgbaston, Birmingham, UK

6Hunter Genetics Conjoint Lecturer, University of Newcastle, Australia

7Service de Génétique Médicale, CHU Nantes, France

8Institut de Génétique Médicale, Pôle de Biologie Pathologie Génétique, Centre Hospitalier Régional Universitaire de Lille, France

9Laboratoire de Cytogénétique, Centre de Génétique Chromosomique, Hôpital Saint-Vincent de Paul, Groupe Hospitalier de l’Institut Catholique de Lille, France

10Service d'Histologie Embryologie Cytogénétique BDR, Hôpital Jean Verdier, AP-HP, Bondy, France

11Service de pédiatrie, hôpital Jean-Verdier, AP-HP, université Paris XIII, Bondy, France

12Service de Psychiatrie Générale et Addictologie, Hôpital Général, CHU Dijon, France

13Centre de Ressources Autisme de Bourgogne, Hôpital d’Enfants, CHU Dijon, France

14Laboratoire de Cytogénétique, Plateau Technique de Biologie, CHU Dijon, France

#Authors contributed equally

*Corresponding Author:
Mosca-Boidron AL
Département de Génétique, Laboratoire de Cytogénétique
Plateau Technique de Biologie 2 rue Angélique Ducoudray
BP 37013, 21070 Dijon Cedex, France
Tel: +33380293489
Fax: +33380295079
E-mail: [email protected]

Received date: 04 January 2017; Accepted date: 12 January 2017; Published date: 19 January 2017

Citation: Poquet H, Faivre L, El Chehadeh S, Morton J, McMullan D, et al. (2017) Further Evidence for Dlgap2 as Strong Autism Spectrum Disorders/Intellectual Disability Candidate Gene. Autism Open Access 6:197. doi:10.4172/2165-7890.1000197

Copyright: © 2017 Poquet H, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


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 results and after fine phenotyping of another patient with a de novo duplication involving DLGAP2 and presenting with autism spectrum disorder intersecting early-onset schizophrenia spectrum disorder, we gathered an international series of 9 cases (6 families) via international data sharing. Five sporadic males with a duplication inherited from apparently asymptomatic parent exhibit autism spectrum disorders/intellectual disability (4/5) and other early-onset neurodevelopmental disorders (1/5). A family with 4 females displayed intellectual disability (2/4) and other earlyonset neurodevelopmental disorders (2/4). This study supports the hypothesis that rare copy number variations encompassing DLGAP2 with incomplete penetrance and variable expressivity could predispose to a broad range of early-onset neurodevelopmental disorders trajectories including autism spectrum disorders/intellectual disability, highlighting the existence of common predisposing factors to these overlapping phenotypic spectrums.


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