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neurogenetics

, Volume 11, Issue 2, pp 251-255

First online:

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

  • Ginevra ZanniAffiliated withInstitut Cochin, Université Paris Descartes, INSERM, CNRS UMR 8104, CHU CochinUnit of Molecular Medicine, Bambino Gesù Childrens’ Hospital Email author 
  • , Hilde van EschAffiliated withCentre for Human Genetics, University Hospitals Leuven
  • , Anissa BensalemAffiliated withINSERM U930 ERL3106, Université Francois-Rebelais, Centre Hospitalier Régional Universitaire
  • , Yoann SaillourAffiliated withInstitut Cochin, Université Paris Descartes, INSERM, CNRS UMR 8104, CHU Cochin
  • , Karine PoirierAffiliated withInstitut Cochin, Université Paris Descartes, INSERM, CNRS UMR 8104, CHU Cochin
  • , Laetitia CastelnauAffiliated withInstitut Cochin, Université Paris Descartes, INSERM, CNRS UMR 8104, CHU Cochin
  • , Hans Hilger RopersAffiliated withMax Planck Institute for Molecular Genetics
  • , Arjan P. M. de BrouwerAffiliated withDepartment of Human Genetics, Radboud University Nijmegen medical Centre
  • , Fréderic LaumonnierAffiliated withINSERM U930 ERL3106, Université Francois-Rebelais, Centre Hospitalier Régional Universitaire
    • , Jean-Pierre FrynsAffiliated withCentre for Human Genetics, University Hospitals Leuven
    • , Jamel ChellyAffiliated withInstitut Cochin, Université Paris Descartes, INSERM, CNRS UMR 8104, CHU Cochin

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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)