By merging genetic data from two large clinical repositories, from a total of more than 30,000 children, researchers have identified 18 copy number variants (CNVs) — DNA deletions or duplications — that play a role in autism. The findings appeared 9 October in Molecular Psychiatry.
Spectrum: Autism Research News
Tag: rare variants
A genetic panel intended to predict the risk of developing autism debuted for clinical use in April, while another is in commercial development and a third was published in Molecular Psychiatry in September. But some experts are concerned, saying the tests are based on preliminary scientific evidence.
People with autism are twice as likely as controls to have mutations that disable both copies of a gene, according to preliminary research presented Wednesday at the Autism Consortium Research Symposium in Boston.
Mutations in SHANK3, a leading autism risk gene, occur in roughly two percent of individuals with autism spectrum disorders, according to a study published 15 August in the European Journal of Human Genetics.
Thomas Bourgeron discovered the first rare mutation linked to non-syndromic autism, pointing to neuronal connections as prime drug targets.
Sharing data and tools is universally efficient, but the study of autism in particular presents challenges that can benefit from an open-science framework, says Randy Buckner.
Individually, common genetic variants confer little risk for autism. But taken together, they may contribute significantly, predicts a statistical analysis published 15 October in Molecular Autism.
The sperm of old mice has an unusual epigenome, the profile of chemical modifications to the underlying DNA code, according to a poster presented Saturday at the 2012 Society for Neuroscience annual meeting in New Orleans. The findings suggest an explanation for the so-called paternal age effect in autism.
Mutations in AFF2, a gene located on the X chromosome, are about five times as common in men with autism as in controls, according to a study published 10 July in Human Molecular Genetics.