A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. SHANK2 encodes a scaffolding protein present in excitatory synapses. This finding sheds some light on the pathophysiology of social and cognitive disability.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Berkel, S. et al. Nat. Genet. 42, 489–491 (2010).
Jamain, S. et al. Nat. Genet. 34, 27–29 (2003).
Laumonnier, F. et al. Am. J. Hum. Genet. 74, 552–557 (2004).
Bill, B.R. & Geschwind, D.H. Curr. Opin. Genet. Dev. 19, 271–278 (2009).
Varoqueaux, F. et al. Neuron 51, 741–754 (2006).
Graf, E.R., Zhang, X., Jin, S.X., Linhoff, M.W. & Craig, A.M. Cell 119, 1013–1026 (2004).
Chih, B., Engelman, H. & Scheiffele, P. Science 307, 1324–1328 (2005).
Gauthier, J. et al. Proc. Natl. Acad. Sci. USA 107, 7863–7868 (2010).
Sebat, J., Levy, D.L. & McCarthy, S.E. Trends Genet. 25, 528–535 (2009).
Bear, M.F., Huber, K.M. & Warren, S.T. Trends Neurosci. 27, 370–377 (2004).
McBride, S.M. et al. Neuron 45, 753–764 (2005).
Dölen, G. et al. Neuron 56, 955–962 (2007).
Goffin, A., Hoefsloot, L.H., Bosgoed, E., Swillen, A. & Fryns, J.P. Am. J. Med. Genet. 105, 521–524 (2001).
Zhou, J. et al. J. Neurosci. 29, 1773–1783 (2009).
Ehninger, D. et al. Nat. Med. 14, 843–848 (2008).
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
State, M. Another piece of the autism puzzle. Nat Genet 42, 478–479 (2010). https://doi.org/10.1038/ng0610-478
Issue Date:
DOI: https://doi.org/10.1038/ng0610-478