Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
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- 17 December 2006
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 39 (1) , 25-27
- https://doi.org/10.1038/ng1933
Abstract
This is an issue edsumm for ng1933. Identification of the Palaeocene/Eocene thermal maximum in a marine sedimentary sequence. It shows that sea surface temperatures near the North Pole increased from roughly 18 degrees Celsius to over 23 degrees Celsius — such warm values imply the absence of ice and thus exclude the influence of ice-albedo feedbacks on this Arctic warming. SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage–sensitive synaptic pathway that is involved in autism spectrum disorders.Keywords
This publication has 15 references indexed in Scilit:
- Searching for ways out of the autism maze: genetic, epigenetic and environmental cluesTrends in Neurosciences, 2006
- Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndromeJournal of Medical Genetics, 2006
- An Architectural Framework That May Lie at the Core of the Postsynaptic DensityScience, 2006
- Overview of cytogenetic regions of interest (CROIs) associated with the autism phenotype across the human genomeMolecular Psychiatry, 2005
- Shank Expression Is Sufficient to Induce Functional Dendritic Spine Synapses in Aspiny NeuronsJournal of Neuroscience, 2005
- Spine architecture and synaptic plasticityTrends in Neurosciences, 2005
- The complexity of PDZ domain-mediated interactions at glutamatergic synapses: a case study on neuroliginNeuropharmacology, 2004
- Terminal 22q Deletion Syndrome: A Newly Recognized Cause of Speech and Language Disability in the Autism SpectrumPediatrics, 2004
- Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autismNature Genetics, 2003
- Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion SyndromeAmerican Journal of Human Genetics, 2001