A new online database provides searchable information for nearly 10,000 genes, variants and chromosomal regions linked to autism. Researchers describe the resource, dubbed AutismKB, in the January issue of Nucleic Acids Research.
Spectrum: Autism Research News
Tag: rare variants
TBL1X, a gene located on the X chromosome, is associated with autism in males but not in females, according to a study published 3 November in Molecular Autism.
Three variants of DISC1, a gene implicated in schizophrenia and autism, may disrupt the formation of new neurons in the brain, according to a study published 17 November in Neuron.
Intellectual disability is more likely to be associated with multiple, large or non-inherited duplications and deletions of DNA than is autism, according to a study published 7 November in PLoS Genetics.
Despite funders’ requirements to share mouse models after publication, many researchers hoard the animals for the good of their labs — and that could have an adverse effect on the field as a whole.
Researchers have identified 12 duplications or deletions of DNA regions that are transmitted along with autism in families with a history of the disorder. The results were published 7 October in PLoS One.
A subset of people with autism have genetic and biochemical abnormalities in a sleep-related enzyme, according to research presented Friday at a satellite conference of the Society for Neuroscience annual meeting in Washington, D.C.
Duplications and deletions of genetic regions linked to autism are rare in individuals referred for genetic testing, but occur at a higher rate than in the general population.
Researchers have identified autism-linked mutations using a technique that can detect deletions or duplications of DNA spanning a single gene.