TY - JOUR
T1 - A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation
AU - Zanni, Ginevra
AU - Van Esch, Hilde
AU - Bensalem, Anissa
AU - Saillour, Yoann
AU - Poirier, Karine
AU - Castelnau, Laetitia
AU - Ropers, Hans Hilger
AU - De Brouwer, Arjan P M
AU - Laumonnier, Fréderic
AU - Fryns, Jean Pierre
AU - Chelly, Jamel
PY - 2010/5
Y1 - 2010/5
N2 - 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.
AB - 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.
KW - Disc-large homolog 3 (DLG3)
KW - Membrane-associated guanylate kinase protein (MAGUK)
KW - Methyl-D-aspartate receptor (NMDAR)
KW - Synapse-associated protein 102 (SAP102)
KW - X-linked mental retardation (XLMR)
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U2 - 10.1007/s10048-009-0224-y
DO - 10.1007/s10048-009-0224-y
M3 - Article
C2 - 19795139
AN - SCOPUS:77954658923
VL - 11
SP - 251
EP - 255
JO - Neurogenetics
JF - Neurogenetics
SN - 1364-6745
IS - 2
ER -