‘Dosage sensitivity map’ predicts active ingredients in copy number variants
The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.
The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.
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.
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.
Strategies to replace or compensate for mutated copies of the TCF4 gene could lead to treatments for this profound form of autism, a new study suggests.
The gene, YTHDF2, may be one of several that contribute to an autism subtype marked by an unusually big brain.
Scientists have at last filled in the missing gaps — an advance likely to inform every aspect of autism genetics research, Eichler says.
Dozens of rare mutations of unknown effects seen in autistic people cause significant changes to fruit flies, suggesting they are linked to the condition.