Skip to main content

Spectrum: Autism Research News

Tag: de novo mutations

September 2021
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.

0 Comments
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.

0 Comments
August 2021

Mutations in the noncoding genome contribute to autism

by  /  2 August 2021

Spontaneous mutations in parts of the genome that regulate gene EBF3 appear to contribute to autism risk.

0 Comments
July 2021

Patchwork mutations present a new frontier for autism research

by  /  12 July 2021

Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.

0 Comments
researchers analyzing a big change in a DNA helix

Evolutionary approach reveals impact of missense variants in autism

by  /  7 July 2021

Cross-species comparisons can help make sense of subtle genetic variants in people with autism and identify hundreds of new genes that may contribute to the condition.

0 Comments
May 2021
DNA helix inside the human body

Autism genetics, explained

by  /  28 May 2021

The more scientists dig into DNA, the more intricate its contribution to autism seems to be. Here, we unravel the complex genetics of autism.

1 Comment
Illustration of a researcher trying to navigate sea of genomic data.

Family approach yields new autism-linked genes

by  /  21 May 2021

About one-third of the HNRNP gene family’s 33 members may be associated with neurodevelopmental conditions, including autism.

0 Comments
January 2021
Molecular model of histone protein which wraps up DNA strands.

New condition hints at structural protein’s role in autism

by  /  22 January 2021

Mutations in genes that encode a histone, which gives structure to chromosomes, can lead to developmental delay and congenital anomalies.

0 Comments
December 2020
White lab mouse sitting in a gloved hand.

Notable papers in autism research, 2020

23 December 2020

Gene therapies and the factors influencing autism traits top Spectrum’s list of the 10 most notable research findings we covered in 2020.

0 Comments
Stylized DNA molecule

Mutations in the same exon linked to similar autism traits

by  /  17 December 2020

People with autism who carry DNA variants in the same protein-coding region of a gene have more similar cognitive abilities and behaviors than those who carry mutations in different regions of the same gene.

0 Comments