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Spectrum: Autism Research News

Tag: de novo mutations

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.

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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.

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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.

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January 2022
Cerebral cortex transcript

Alternate RNA versions of genes may shape autism

by  /  7 January 2022

Autism may involve different levels of RNA isoforms encoded by genes in the brain, which express many more proteins than previously thought.

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December 2021

Trends in autism research 2021

 /  23 December 2021

As 2021 comes to a close, Spectrum recaps some of the biggest trends in autism science this year: studies of sex differences, noncoding regions of the genome and points of convergence, as well as efforts to improve screening and participatory research.

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Cluster of traits tied to rare mutations in autism-linked gene

by  /  20 December 2021

Developmental delay, intellectual disability and behavioral issues are common among people who have mutations in MYT1L, a gene with strong ties to autism.

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Glial cells star in autism-linked gene expression analysis

by  /  15 December 2021

Many genes linked to autism are switched on in the brain’s glia, cells that help neurons develop and synapses form.

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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.

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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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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.

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