A mouse model of Rett syndrome that mimics a mutation seen in people shows many features of the disorder, such as hand clasping, according to a study published 27 November in Nature Neuroscience.

Researchers have derived neurons from stem cells to investigate mutations that lead to Rett and fragile X syndromes.

The brains of mice that model Rett syndrome are smaller than normal overall and have differences in specific regions similar to those seen in people with the disorder, according to unpublished research presented Wednesday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.

Mice with a mutation in the Rett syndrome gene are more social than controls, according to a study published 11 September in Behavioral Genetics. The results, based on detailed observation of social behavior, support previous studies showing that Rett syndrome mouse models do not have severe social deficits.

Mice that have an excess of the Rett syndrome protein MeCP2 have biochemical and neuronal characteristics that are strikingly similar to those of mice that completely lack the protein, according to unpublished research described Sunday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.

Loss of MeCP2, the Rett syndrome gene, in neurons that release the chemical messenger dopamine may lead to the motor deficits associated with the syndrome.

Including more females in autism research studies will aid the search for genetic and environmental susceptibility factors for the disorder, says genetic psychiatrist Lauren Weiss.

The first study to sequence more than 100 genes on the X chromosome in people with autism or schizophrenia has turned up some promising leads.

The protein missing in people with fragile X syndrome regulates the activity of more than 800 other proteins, including some key players in autism, according to a study published 22 July in Cell. Many of these autism-associated proteins cluster on either side of the synapse, the junction between neurons.

A new computer algorithm has identified the gene responsible for a newly discovered human disease, researchers report this week in The American Journal of Human Genetics. Unlike traditional methods, the algorithm takes into account both the odds of a particular genetic variant being associated with the disorder and the variant’s effect on protein function.