Several lines of converging evidence suggest that low-density lipoprotein receptor-related protein 2 (LRP2), which is involved in early patterning of the brain, is a risk gene for autism.
To find the pathogenic mutations in complex disorders such as autism, researchers may need to conduct sophisticated analyses of the genetic functions that are disrupted, says geneticist Aravinda Chakravarti.
Rare variants make up the vast majority of human genetic variation, according to two independent papers published in May in Science. That means that genetic studies of complex diseases such as autism are likely to require tens of thousands of participants.
Researchers have found deletions and duplications of a small piece of chromosome 2 in individuals with autism, developmental delay, epilepsy or attention deficit hyperactivity disorder.
By screening for recessive mutations, which are present in both copies of a gene, researchers have identified four autism candidates that may be involved in neuronal signaling, according to a study published 12 April in PLoS Genetics.
Researchers typically use only one ‘cohort,’ a group of about three dozen mice, for a given set of experiments. When others repeat the experiments with a different set of animals, sometimes the results hold up, and sometimes they don’t.
Children with autism carry twice as many new and damaging genetic mutations as typically developing children, according to a new study published in Neuron. The researchers also identified intriguing genetic links between autism and fragile X syndrome.
Researchers have mapped networks of genes expressed at the same time and place in the brain and shown that rare and common autism-linked mutations are likely to function in the same pathways. The results were published 8 March in PLoS Genetics.
Genes implicated in Tourette syndrome overlap with those involved in autism, according to an analysis of rare DNA duplications and deletions in people with the syndrome, published in the March issue of Biological Psychiatry.