The gene, YTHDF2, may be one of several that contribute to an autism subtype marked by an unusually big brain.
Spectrum: Autism Research News
Tag: de novo mutations
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.
As 2021 comes to a close, Spectrum recaps some of the biggest trends in autism science this year: studies of sex differences, noncoding regions of the genome and points of convergence, as well as efforts to improve screening and participatory research.
Developmental delay, intellectual disability and behavioral issues are common among people who have mutations in MYT1L, a gene with strong ties to autism.
Many genes linked to autism are switched on in the brain’s glia, cells that help neurons develop and synapses form.
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.
An advanced DNA-sequencing technique has identified gene-damaging mutations, some with ties to autism, in about 1 in 15 men.
Spontaneous mutations in parts of the genome that regulate gene EBF3 appear to contribute to autism risk.