Two new genetic mouse models that debuted this week show that having too many or too few copies of certain genetic regions leads to an array of symptoms reminiscent of autism.

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.

Charcot-Marie-Tooth disease and autism are both associated with alterations in the number of copies of certain genetic regions, mutations in multiple candidate genes and with both inherited and spontaneous mutations, notes human geneticist James Lupski.

Researchers have identified autism-linked mutations using a technique that can detect deletions or duplications of DNA spanning a single gene.

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more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.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.

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.

Two autism-associated genes that function at the synapse, the junction between neurons, are associated with severe intellectual disability, according to a study published 9 August in BMC Medical Genetics.

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.