Identifying the factors that protect girls from autism may help us understand and possibly treat the disorder.
Spectrum: Autism Research News
Tag: common variants
DNA sequences called enhancers — which boost the expression of genes from within or outside them — are enriched for genetic variants linked to autism, suggests a new study. The finding may help researchers understand how variants outside genes contribute to autism.
After eight years of prominence as an autism risk gene, a new analysis significantly brings down CNTNAP2’s importance in the disorder: According to the study, rare mutations in a single copy of the gene are unlikely to cause autism.
By analyzing stem cells derived from baby teeth, researchers have tracked a child’s autism to mutations in a gene called TRPC6. The molecular saga highlights a painless way to probe the role some genes play in autism.
A new computational approach predicts how sequence variations in both the coding and noncoding regions of a gene affect the gene’s expression. The method, described today in Science, may help researchers understand how specific variants contribute to disorders such as autism.
Boys with autism who carry rare, spontaneous mutations have lower intelligence quotients and more severe symptoms than do those who may have inherited the disorder. The finding, published 21 October in the Proceedings of the National Academy of Sciences, hints at two classes of autism risk with varying severity.
Researchers have analyzed more than 90,000 exomes — the protein-coding regions of the genome — the largest such set yet, they announced Monday at the American Society of Human Genetics Annual Meeting in San Diego. The resource gives scientists an invaluable tool to probe the significance of specific mutations.