Format

Send to

Choose Destination
See comment in PubMed Commons below
Neurogenetics. 2010 May;11(2):251-5. doi: 10.1007/s10048-009-0224-y. Epub 2009 Oct 1.

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

Author information

1
Institut Cochin, Université Paris Descartes, INSERM, CNRS UMR 8104, CHU Cochin, Paris, France. ginevra.zanni@opbg.net

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.

PMID:
19795139
DOI:
10.1007/s10048-009-0224-y
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Support Center