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.
Spectrum: Autism Research News
Tag: rare variants
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.
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more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.
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.
Harmful spontaneous mutations may account for up to half the cases of non-inherited schizophrenia.