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

Research output: Contribution to journalArticlepeer-review

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 nonsyndromic 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.

Original languageEnglish
Pages (from-to)251-255
Number of pages5
JournalNeurogenetics
Volume11
Issue number2
DOIs
Publication statusPublished - May 2010

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Cellular and Molecular Neuroscience
  • Genetics

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