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more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.
Spectrum: Autism Research News
Tag: simplex families
Harmful spontaneous mutations may account for up to half the cases of non-inherited schizophrenia.
Three new studies analyzing genetic data from families in which just one child has autism have found the strongest evidence yet that rare new mutations contribute to the disorder.
A new analysis of children with autism and their unaffected parents provides the best evidence to date that mutations in multiple genes may work together to cause autism and related disorders.
A gene involved in epigenetics — regulation of gene expression by modifying DNA, but without altering the sequence — is associated with autism in families that have only one child with the disorder, according to a study published in November.
Areas of the brain that are active when people are daydreaming or sleeping, and quiet when they are engaged in a task, are imperfectly synchronized in people with autism and attention deficit hyperactivity disorder, researchers say.
The Simons Simplex Collection (SSC), a database of genetic and clinical information from families that include one child with autism, has gathered data from more than 2,000 different families, researchers report in the October issue of Neuron.
Two independent teams have identified the genetic culprits of three rare, inherited diseases by sequencing the genomes of several members of the same family. As the cost of whole-genome sequencing plummets, this family-based approach will reveal candidate genes not just for rare diseases but for common, complex disorders such as autism, experts say.