Skip to main content

Spectrum: Autism Research News

Tag: de novo mutations

August 2022
Illustration of two chromosomes with copy number variants.

‘Dosage sensitivity map’ predicts active ingredients in copy number variants

by  /  31 August 2022

The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.

Comments
Conceptual illustration of a DNA double helix

Scans of sundry variant types uncover autism-linked genes

by  /  18 August 2022

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.

Comments

Mutations disrupting chromatin interactions contribute to autism

by  /  8 August 2022

The mutations occur spontaneously in noncoding stretches of DNA that control gene expression.

Comments
July 2022
Figure in space heads towards unknown, dark area.

The final frontier: Autism geneticists take on the noncoding genome

by  /  12 July 2022

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.

Comments
June 2022
Illustration of two figures in a field of black circles representing genetic risks. The circles surround the figure on the left and stay farther away from the figure on the right.

Common inherited variants tied to autism show sex bias in families

by  /  23 June 2022

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.

Comments
A street crowded with pedestrian traffic

Spectrum of variants contribute differently to autism traits

by  /  3 June 2022

Different combinations of common, rare, inherited and spontaneous mutations may explain why traits vary so widely among autistic people.

Comments

Organoids test gene therapies for Pitt-Hopkins syndrome

by  /  2 June 2022

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.

Comments
May 2022
Three views of zebrafish.

Novel gene linked to brain size in autistic people

by  /  16 May 2022

The gene, YTHDF2, may be one of several that contribute to an autism subtype marked by an unusually big brain.

Comments

Autism and the complete human genome: Q&A with Evan Eichler

by  /  10 May 2022

Scientists have at last filled in the missing gaps — an advance likely to inform every aspect of autism genetics research, Eichler says.

Comments
April 2022

Fruit flies help reveal effects of autism-linked mutations

by  /  13 April 2022

Dozens of rare mutations of unknown effects seen in autistic people cause significant changes to fruit flies, suggesting they are linked to the condition.

Comments