Kliniken & Institute … Institute Humangenetik Forschung Abt. Molekulare… Synaptic proteins SHANK…


The German Mental Retardation Networks (MRNET funded by the BMBF)  performs genome-wide SNP-chip analyses to determine DNA losses and gains in patients with mental retardation. Within this framework  MRMET, we have recently linked the  synaptic scaffolding protein gene SHANK2 to autism and mental retardation. We have therefore analyzed the functional impact caused by SHANK2 mutations in autistic individuals. We were able to show that the variants linked to autism spectrum disorder impair neuronal morphogenesis, synaptic transmission and behavior in mice.

Berkel, S., Marshall, C.R., Weiss, B., Howe, J., Roeth, R., Moog, U., Endris, V., Roberts, W., Szatmari, P., Pinto, D., Bonin, M., Riess, A., Engels, H., Sprengel, R., Scherer, S. W., Rappold, G.A. Mutations detected in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat. Genet. 42(6):489-91, 2010 

Berkel, S., Tang, W., Treviño, M., Vogt, M., Gass, P., Scherer, S. W., Sprengel, R., Schratt, G., Rappold, G. A.: SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and can be linked to physiological effects. Hum. Mol. Genet. 21:344-57, 2012.