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.
A gene that changed rapidly after the human genome diverged from that of Neanderthals plays a critical role in brain development, according to unpublished results presented Thursday at the International Congress of Human Genetics in Montreal, Canada.
Individuals who have autism and dysmorphology comprise a distinct subgroup within the disorder, says geneticist Judith Miles.
Charcot-Marie-Tooth disease and autism are both associated with alterations in the number of copies of certain genetic regions, mutations in multiple candidate genes and with both inherited and spontaneous mutations, notes human geneticist James Lupski.
Individuals with a duplication of a chromosomal region associated with autism and intellectual disability are at higher risk for low birth weight, restricted eating leading to extreme thinness, and smaller-than-average head size.
Two children with Asperger syndrome have disruptions in the PARK2 gene — one child has a duplication in the gene whereas the other has a deletion — according to a study published in February in the American Journal of Medical Genetics.
Mutations in a gene that organizes synapses — the junctions between neurons — may increase the risk of autism, according to a study published in February in Autism Research. The study bolsters evidence linking a pathway involved in cell-to-cell communication to autism.
One of the first large-scale, ongoing studies documenting the symptoms of Angelman syndrome — a neurological disorder with features similar to autism — is calling into question some of the so-called characteristic symptoms of the syndrome.
The mouse brain has more than 1,300 regions for which the copy from one parent is expressed more often than the one from the other parent, according to two studies published today in Science. These so-called imprinted genes have been proposed to cause some cases of autism, but the researchers say their findings do not support that theory.
We know that carrying one specific DNA variant can increase your risk of autism. What if you carry two?