Mice lacking one copy of the autism-linked 16p11.2 chromosomal region are thin, deaf and show repetitive behaviors. They also have altered proportions of neurons in their brains, particularly those that express the chemical messenger dopamine. The unpublished results were presented Sunday at the 2012 Society for Neuroscience annual meeting in New Orleans.
Traditional prenatal testing cannot distinguish between large disruptive chromosomal duplications and multiple harmless repeats, according to a study published 25 July in the European Journal of Human Genetics.
About 1 in 500 children referred to genetic testing for undefined developmental delay, intellectual disability, or autism have duplications of the 15q11-13 chromosomal region, according to a new analysis. That makes the region the second most common large genetic alteration linked to autism.
TAOK2, a gene in the autism-associated 16p11.2 chromosomal region, is part of a signaling pathway that builds neuronal connections during development, according to a study published 10 June in Nature Neuroscience.
Analyzing how mutations in people with autism affect gene expression in blood-derived cells could help researchers pinpoint harmful mutations, according to research published 21 July in The American Journal of Human Genetics.
A new approach allows researchers to visualize individual neurons in the small, clear brains of larval zebrafish as they interact with their surroundings, according to a study published 9 May in Nature.
An analysis of large duplications and deletions of DNA has identified new candidate genes for autism in pathways linked to the disorder. The results were published 22 May in Human Molecular Genetics.
By creating genetically engineered fish, two independent groups have identified genes in an autism hotspot on chromosome 16 that influence head size and brain development.
Identifying genetic and other factors that protect children at risk of autism from developing the disorder could provide new avenues for treatment.
A new study, published in the journal Pediatrics, made headlines this week by suggesting that motherhood obesity may increase the risk of autism in children.