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Spectrum: Autism Research News

Tag: copy number variation

July 2023
A couple drinks tea at a café.

Partner selection may amplify rare variants in children

by  /  6 July 2023

Nonrandom mating — the propensity for people to partner with others who share their traits — can increase the likelihood of autism or other conditions across generations.

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June 2023
Illustration of mitochondria as a kind of Stonehenge, with the shapes standing upright, casting shadows, against a blue sky.

Mitochondria mediate effects of PTEN mutations

by  /  26 June 2023

Whole-genome sequencing data — which include information about mitochondrial DNA — offer clues to why mutations in the same gene can lead to autism or cancer.

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March 2023
Research diagram of brains viewed from overhead and in profile.

Brain signatures of rare variants hint at cardiovascular risk

by  /  24 March 2023

People whose brains look like those of people who carry autism-linked copy number variants also share markers of heart health.

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December 2022
X chromosome against a dark background.

Common and rare autism-linked variants share functional effects

by  /  1 December 2022

Within the 16p region of the genome, the two types of variants similarly decrease neuronal gene expression — an effect that may reflect their spatial relationship.

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October 2022
A young girl rubs her eyes in a dark room.

Autistic people at increased genetic risk of sleep problems

by  /  18 October 2022

Compared with their unaffected siblings and unrelated controls, children with autism harbor more copy number variants in genes that govern the circadian cycle or are associated with insomnia.

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September 2022
Conceptual illustration of a door leading from one area of the brain to another area of the brain.

Autism’s genetic heterogeneity evident in brain connectivity patterns

by  /  27 September 2022

The results highlight the importance of subgrouping study participants based on their underlying genetics, the researchers say.

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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.

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A large MRI scan of a human brain, with a grid of 15 smaller MRI scans to its left

Chromosome 22 mutations leave telltale marks on brain development in autistic people

by  /  24 August 2022

Many brain regions develop differently between people with 22q11.2 duplications and deletions, and those trajectories also vary with a person’s diagnosis.

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Conceptual illustration of chromosomal abnormalities

Lumping versus splitting with autism-linked variants: A conversation with Vanessa Vogel-Farley and Yssa DeWoody

by  /  22 August 2022

Researchers have long studied subgroups of people who share genetic variants, but the newly formed ‘CNV Commission’ is also looking at people with shared traits across different neurodevelopmental conditions.

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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.

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