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.
The largest set of exome sequencing studies of children with autism and their families to date has identified a handful of genes that may increase risk of the disorder, according to research published in Nature.
The odds of having a child with autism begin to rise at age 35 for both men and women, but that risk does not increase further when both parents are over 35, according to a large study published in the March issue of Annals of Epidemiology.
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.
Researchers have identified the genetic root of severe mitochondrial disorders in infants whose cases couldn’t be solved by standard genetic testing, according to research published last week in Science Translational Medicine.
Children, especially girls, with autism who have older fathers are more likely than those with younger fathers to be the only child with the disorder in their family, according to a new study published 16 December in Autism.
Intellectual disability is more likely to be associated with multiple, large or non-inherited duplications and deletions of DNA than is autism, according to a study published 7 November in PLoS Genetics.
Researchers have identified 12 duplications or deletions of DNA regions that are transmitted along with autism in families with a history of the disorder. The results were published 7 October in PLoS One.
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.