By screening for recessive mutations, which are present in both copies of a gene, researchers have identified four autism candidates that may be involved in neuronal signaling, according to a study published 12 April in PLoS Genetics.
Researchers have identified four new mutations in the autism-linked gene neurexin-1 in individuals who have autism and severe intellectual disability, they reported 3 April in Neurobiology of Disease.
Researchers have identified deletions in SHANK1 — the third member of a gene family that is closely linked to autism — in five men with the disorder, they reported 4 May in the American Journal of Human Genetics. This is the first study linking SHANK1 mutations to people with autism.
The largest brain imaging study ever performed has identified candidate genes that influence brain size and general intelligence, according to research published 15 April in Nature Genetics.
Researchers have generated and sequenced almost 200 different strains of fruit flies, a widely used model organism, according to a study published 8 February in Nature. The resource they created, called the Drosophila Genetic Reference Panel, will enable researchers to link genetic variants with aspects of fly biology and behavior.
The genetic risk factors for autism may also increase a person’s risk of developing ankylosing spondylitis, a form of arthritis of the spine, and decrease the risk of multiple sclerosis, according to a study published 13 December in Translational Psychiatry.
The genome-wide association study has been the favorite whipping post among some geneticists, but three new reviews come to its defense.
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.
The rise of whole-genome sequencing is likely to result in a deluge of lawsuits against doctors for misinterpreting disease risks, two lawyers caution in an essay in Slate.
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.