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

  • Ginevra Zanni
  • Hilde van Esch
  • Anissa Bensalem
  • Yoann Saillour
  • Karine Poirier
  • Laetitia Castelnau
  • Hans Hilger Ropers
  • Arjan P. M. de Brouwer
  • Fréderic Laumonnier
  • Jean-Pierre Fryns
  • Jamel Chelly
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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

Authors and Affiliations

  • Ginevra Zanni
    • 1
    • 3
  • Hilde van Esch
    • 2
  • Anissa Bensalem
    • 4
  • Yoann Saillour
    • 1
  • Karine Poirier
    • 1
  • Laetitia Castelnau
    • 1
  • Hans Hilger Ropers
    • 5
  • Arjan P. M. de Brouwer
    • 6
  • Fréderic Laumonnier
    • 4
  • Jean-Pierre Fryns
    • 2
  • Jamel Chelly
    • 1
  1. 1.Institut CochinUniversité Paris Descartes, INSERM, CNRS UMR 8104, CHU CochinParisFrance
  2. 2.Centre for Human GeneticsUniversity Hospitals LeuvenLeuvenBelgium
  3. 3.Unit of Molecular MedicineBambino Gesù Childrens’ HospitalRomeItaly
  4. 4.INSERM U930 ERL3106, Université Francois-Rebelais, Centre Hospitalier Régional UniversitaireToursFrance
  5. 5.Max Planck Institute for Molecular GeneticsBerlinGermany
  6. 6.Department of Human GeneticsRadboud University Nijmegen medical CentreNijmegenThe Netherlands