neurogenetics

, Volume 11, Issue 2, pp 251–255

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

Authors

    • Institut CochinUniversité Paris Descartes, INSERM, CNRS UMR 8104, CHU Cochin
    • Unit of Molecular MedicineBambino Gesù Childrens’ Hospital
  • Hilde van Esch
    • Centre for Human GeneticsUniversity Hospitals Leuven
  • Anissa Bensalem
    • INSERM U930 ERL3106, Université Francois-Rebelais, Centre Hospitalier Régional Universitaire
  • Yoann Saillour
    • Institut CochinUniversité Paris Descartes, INSERM, CNRS UMR 8104, CHU Cochin
  • Karine Poirier
    • Institut CochinUniversité Paris Descartes, INSERM, CNRS UMR 8104, CHU Cochin
  • Laetitia Castelnau
    • Institut CochinUniversité Paris Descartes, INSERM, CNRS UMR 8104, CHU Cochin
  • Hans Hilger Ropers
    • Max Planck Institute for Molecular Genetics
  • Arjan P. M. de Brouwer
    • Department of Human GeneticsRadboud University Nijmegen medical Centre
  • Fréderic Laumonnier
    • INSERM U930 ERL3106, Université Francois-Rebelais, Centre Hospitalier Régional Universitaire
  • Jean-Pierre Fryns
    • Centre for Human GeneticsUniversity Hospitals Leuven
  • Jamel Chelly
    • Institut CochinUniversité Paris Descartes, INSERM, CNRS UMR 8104, CHU Cochin
SHORT COMMUNICATION

DOI: 10.1007/s10048-009-0224-y

Cite this article as:
Zanni, G., van Esch, H., Bensalem, A. et al. Neurogenetics (2010) 11: 251. doi:10.1007/s10048-009-0224-y

Abstract

We have identified a novel splice site mutation (IVS6-1G > A) in the disc-large homolog 3 (DLG3) gene, encoding the synapse-associated protein 102 (SAP102) in one out of 300 families with moderate to severe non-syndromic mental retardation. SAP102 is a member of the neuronal membrane-associated guanylate kinase protein subfamily comprising SAP97, postsynaptic density (PSD)95, and PSD93, which interacts with methyl-d-aspartate receptor and associated protein complexes at the postsynaptic density of excitatory synapses. DLG3 is the first mental retardation gene directly linked to glutamate receptor signalling and trafficking, increasingly recognised as a central mechanism in the regulation of synaptic formation and plasticity in brain and cognitive development.

Keywords

Synapse-associated protein 102 (SAP102)X-linked mental retardation (XLMR)Disc-large homolog 3 (DLG3)Methyl-d-aspartate receptor (NMDAR)Membrane-associated guanylate kinase protein (MAGUK)

Copyright information

© Springer-Verlag 2009