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01.05.2010 | SHORT COMMUNICATION

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

verfasst von: 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

Erschienen in: Neurogenetics | Ausgabe 2/2010

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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.

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Titel: A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation
verfasst von: 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
Publikationsdatum: 01.05.2010
Verlag: Springer-Verlag
Erschienen in: Neurogenetics / Ausgabe 2/2010
Print ISSN: 1364-6745
Elektronische ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-009-0224-y

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

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