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Spectrum: Autism Research News

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Genes

Rare or common, inherited or spontaneous, mutations form the core of autism risk.

October 2021
Multicolored diagram comparing genetic burdens amongst non-autistic people, autistic people who carry specific rare mutations and autistic people who lack such mutations.

Rare mutations prevalent among autistic people

by  /  29 October 2021

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.

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Autism-linked gene SYNGAP1 molds synaptic plasticity, learning

by  /  21 October 2021

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.

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Illustration: a 3D DNA molecule sits on a gridded background, with yellow paper rays arrayed around it.

Subset of autism cases linked to mutations in noncoding genome

by  /  20 October 2021

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.

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Simple flat color DNA helix in two tones of blue.

Autism-linked genetic variants increase, decrease intelligence

by  /  19 October 2021

Common and rare variants in or near autism-associated genes can have opposite effects on cognition.

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white lab mouse grooming.

Cancer drug alters autism-like traits in mice

by  /  5 October 2021

A drug that helps promote gene expression reduces repetitive behaviors and improves memory and sociability in a mouse model of autism.

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Two colorful mouse neurons seen side by side on black, one has a mutation.

Precocious neurons may stunt brain growth in rare form of autism

by  /  5 October 2021

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.

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September 2021
Cells in the cerebral cortex.

Atlas maps gene activity, accessibility in developing brain

by  /  30 September 2021

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.

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Abstraction of human genome data with some sections circled.

Analysis ups estimate of spontaneous mutations’ role in autism

by  /  27 September 2021

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.

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A concerned man holds his toddler close

Severe infection may raise odds of autism in some children

by  /  17 September 2021

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.

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circuit board style lines in black and white suggest sperm approaching an egg.

Mutations linked to autism may be detectable in men’s sperm

by  /  16 September 2021

An advanced DNA-sequencing technique has identified gene-damaging mutations, some with ties to autism, in about 1 in 15 men.

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