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Genes

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

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Young child on her bed looking at a book.

Studies unravel diversity of traits tied to chromosome 16 mutations

by  /  3 August 2020
Two new analyses help to explain why mutations to the chromosomal region 16p11.2 can lead to autism, intellectual disability or language difficulties.
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micrograph of a slice of mouse brain

Autism genes may play key role in development of amygdala

by  /  27 July 2020
Nearly all genes with moderate to strong ties to autism are expressed in the developing amygdala; a few show altered expression in the amygdalae of autistic people.
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Micrograph of muscle cells

Some motor problems in autism may arise from cells outside brain

by  /  20 July 2020
The autism gene SHANK3 is crucial for the development and function of muscles and the motor neurons that control them.
July 2020
group of 4 brain views
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Autistic people with rare mutation may have unique brain anatomy

by  /  17 July 2020

Brain structure of autistic people with deletions in the chromosomal region 22q11.2 differs from that of autistic people without the deletions.

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News

Selective enzyme blocker eases fragile X traits in mice

by  /  10 July 2020

A new treatment prevents seizures and improves memory in a mouse model of fragile X syndrome, according to a new study.

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DNA helix with mutation or deletion
News / Toolbox

Scores forecast effects of mutations in autism gene

by  /  8 July 2020

A new analysis links individual mutations in a gene called PTEN to a person’s odds of having autism, cancer or other conditions.

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Fine-tuning brain activity reverses memory problems in mice with autism mutation

by  /  6 July 2020

Dampening overactive brain circuits alleviates social and memory problems in a mouse model of 22q11.2 deletion syndrome.

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June 2020
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Study links gene to inherited form of autism

by  /  25 June 2020

Mutations in both copies of a gene called ACTL6B lead to autism, epilepsy and intellectual disability.

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A genome data set shows colorful clusters by ancestry
News / Toolbox

Massive genomic database helps decode mutations’ effects

by  /  24 June 2020

A trove of DNA sequences from 141,456 people — and counting — offers an unparalleled look at genetic variation.

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Decade of data dents idea of a ‘female protective effect’

by  /  12 June 2020

Brothers and sisters of people with autism are both about two to three times more likely than the general population to have an autistic child themselves.

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May 2020
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Reversing SHANK3 mutations in mice mitigates autism-like traits

by  /  28 May 2020

Correcting an autism gene mutation in fetal mice lessens some autism-like behaviors after birth.

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Rare mutations in autism genes tied to intellectual disability

by  /  22 May 2020

A new study highlights the challenge of distinguishing genetic variants linked to autism from those associated with cognitive development.

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Environmental factors unlikely to account for rise in autism prevalence

by  /  18 May 2020

The relative contributions of genetic and environmental factors to autism have held steady over multiple decades, according to a large twin study.

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