Researchers have found deletions and duplications of a small piece of chromosome 2 in individuals with autism, developmental delay, epilepsy or attention deficit hyperactivity disorder.
Spectrum: Autism Research News
Tag: rare variants
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.
Children with autism carry twice as many new and damaging genetic mutations as typically developing children, according to a new study published in Neuron. The researchers also identified intriguing genetic links between autism and fragile X syndrome.
Researchers have mapped networks of genes expressed at the same time and place in the brain and shown that rare and common autism-linked mutations are likely to function in the same pathways. The results were published 8 March in PLoS Genetics.
By screening the genomes of hundreds of people with autism and analyzing the effects of newly identified mutations in cultured neurons, researchers have clarified the disorder’s link to the SHANK2 gene.