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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 536143.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation
Authors:Zanni, Ginevra; van Esch, Hilde; Bensalem, Anissa; Saillour, Yoann; Poirier, Karine; Castelnau, Laetitia; Ropers, Hans-Hilger; . de Brouwer, Arjan P. M.; Laumonnier, Fréderic; Fryns, Jean-Pierre; Chelly, Jamel
Language:English
Title of Journal:Neurogenetics
Journal Abbrev.:Neurogenetics
Volume:11
Issue / Number:2
Start Page:251
End Page:255
Copyright:2010 Springer
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Free 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)
Comment of the Author/Creator:email: ginevra.zanni@opbg.net
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Université Paris Descartes, INSERM, CNRS UMR 8104, CHU Cochin Institut Cochin Paris France;
2.University Hospitals Leuven Centre for Human Genetics Leuven Belgium;
3.Bambino Gesù Childrens’ Hospital Unit of Molecular Medicine 4 Piazza S. Onofrio 00165 Rome Italy;
4.INSERM U930 ERL3106, Université Francois-Rebelais, Centre Hospitalier Régional Universitaire Tours France;
5.Radboud University Nijmegen medical Centre Department of Human Genetics Nijmegen The Netherlands.
Identifiers:URL:http://www.springerlink.com/content/50272w661g7m43...
ISSN:1364-6745
DOI:10.1007/s10048-009-0224-y
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