A quarter of autistic people carry rare genetic variations linked to autism and other neurodevelopmental conditions, but these mutations alone may not be enough to lead to autism.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
Even partial loss of the gene impairs the mouse brain’s ability to respond to sensory experiences, which may explain why people with SYNGAP1 mutations tend to have learning difficulties and a high pain tolerance.
Autism involves mutations in noncoding portions of the genome in at least 3 percent of people with the condition. The mutations occur in regions that help regulate known autism-linked genes.
Common and rare variants in or near autism-associated genes can have opposite effects on cognition.
The first animal model of MYT1L syndrome suggests that fast-maturing neurons lead to the unusually small brains, social deficits and other traits seen in people with the condition.
A new resource profiles gene expression and the accessibility of DNA in single cells across the developing human cerebral cortex and may help scientists decipher the effects of noncoding mutations linked to autism.
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.
Mock viral infections impair social memory in mice with a mutation tied to autism, and autistic boys are more likely than their non-autistic peers to have had serious infections early in life.
An advanced DNA-sequencing technique has identified gene-damaging mutations, some with ties to autism, in about 1 in 15 men.