Genetics: Exome study finds new autism-linked mutations
Researchers have identified autism-linked mutations using a technique that can detect deletions or duplications of DNA spanning a single gene.
Researchers have identified autism-linked mutations using a technique that can detect deletions or duplications of DNA spanning a single gene.
The largest and most ambitious genome-sequencing project to date aims to identify rare variants and study their association to disease traits in 10,000 people.
Children with autism carry many more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.
Researchers have developed standard genetic reference samples that clinicians can use to diagnose Angelman and Prader-Willi syndromes, two disorders associated with the same chromosomal region.
Individuals with fragile X syndrome make slightly more eye contact in stressful social situations after taking oxytocin compared with placebo.
Nothing is known about how the brain changes in aging individuals with autism, according to a review published online 24 August in Gerontology. Nor do researchers know whether the core symptoms of the disorder improve, worsen or remain unchanged with age.
A variant of the FGF14 gene may decrease the volume of the amygdala, a brain structure needed to interpret emotions in facial expressions, according to results presented on Sunday at the World Congress of Psychiatric Genetics 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.
The offspring of older male mice are 16 times more likely to harbor a spontaneous copy number variation — a deletion or duplication of genetic material — than are the offspring of young males, according to a new study.
The six diagnostic measures used to distinguish Asperger syndrome from high-functioning autism do not identify a unique subset of people, according to an analysis of 69 studies, published 2 August in Autism.