Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.
Spectrum: Autism Research News
Tag: Simons Simplex Collection
The mutations occur spontaneously in noncoding stretches of DNA that control gene expression.
The vast stretches of DNA that don’t code for proteins could fill key knowledge gaps about autism genetics. But making sense of it all won’t be easy.
Siblings of autistic females are more likely to have autism than siblings of autistic males are, and mothers of autistic children carry more common, autism-linked variants than fathers do.
Different combinations of common, rare, inherited and spontaneous mutations may explain why traits vary so widely among autistic people.
The gene, YTHDF2, may be one of several that contribute to an autism subtype marked by an unusually big brain.
Common and rare variants in or near autism-associated genes can have opposite effects on cognition.
Spontaneous genetic mutations contribute to autism in 30 to 39 percent of all people with the condition, and 52 to 67 percent of autistic children whose siblings do not also have the condition.
Spontaneous mutations in parts of the genome that regulate gene EBF3 appear to contribute to autism risk.
Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.