Article
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.
Neurogenetics - 1 May 2010
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
Abstract excerpt
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 g...
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