Three mutations in SHANK2, an autism-associated gene, each lead to abnormal synapses, the junctions between neurons, according to a study in Human Molecular Genetics.
Spectrum: Autism Research News
Tag: de novo mutations
Individuals who have autism show distinct patterns of gene expression in neurological pathways compared with their unaffected siblings, according to unpublished work presented Saturday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.
In families that have more than one child with autism, the middle children, particularly those born second, have a higher risk of developing autism than other children in the family, according to a study published 19 October in PLoS One. In families that have only one child with autism, however, risk of the disorder rises with each additional birth, the study found.
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.
Individuals who have multiple children with autism have more severe social and communication deficits than either controls or those who have only one child with autism.
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more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.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.