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Spectrum: Autism Research News

Tag: de novo mutations

December 2020
Paper DNA with one torn base to signify a point mutation.

Analysis links 98 genes to neurodevelopmental conditions

by  /  10 December 2020

Genetic sequences from nearly 53,000 people with autism, developmental delay or intellectual disability reveal strong ties to 98 genes.

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Cells transporting NCKAP1 protein in and out of nucleus

Rare variants tied to neuronal migration, autism traits

by  /  4 December 2020

Many people with mutations in the NCKAP1 gene have autism or autism traits, according to a new study spanning seven countries.

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November 2020
Group of DNA helixes are seen on black

Analysis combining variants, conditions uncovers hundreds of neurodevelopmental genes

by  /  2 November 2020

The first genetic analysis of multiple types of variants from people with autism or other neurodevelopmental conditions reveals hundreds of genes that may be linked to neurodevelopment.

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October 2020

Reactions from ASHG 2020

by  /  30 October 2020

Get the inside scoop from the 2020 American Society of Human Genetics annual meeting.

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Mature dad and his daughter plays with blocks

Parental age plays small role in large mutations tied to autism

by  /  26 October 2020

Most of the large, spontaneous genetic mutations tied to autism are passed down from fathers. But, unlike with smaller mutations, a parent’s age is unlikely to up the rate at which they occur.

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July 2020
Man working from home office.

INSAR 2020, from home

by  /  31 July 2020

Like so many other events this year, autism’s biggest annual conference — the International Society for Autism Research meeting — was forced to go virtual because of the coronavirus pandemic.

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May 2020

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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April 2020
Microscopic view of neurons

Mutations in autism gene linked to distinct conditions

by  /  3 April 2020

Individuals with mutations in an autism gene called TRIO may have a range of conditions, including intellectual disability and anomalous head size.

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March 2020
MRI scans of a child's brain with DDX3X mutation

Newly identified mutations clarify gene’s link to autism, intellectual disability

by  /  12 March 2020

Researchers have cataloged more than 100 mutations in DDX3X, a candidate gene for autism.

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Brain scans showing differences between those with TBR1 mutations and controls.

Mutations in top autism gene linked to changes in brain structure

by  /  4 March 2020

People with mutations in a gene called TBR1 have unusual features in several brain regions, along with autism traits and developmental delay.

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