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Spectrum: Autism Research News

Tag: de novo mutations

July 2014

Cluster of symptoms reveals gene’s link to autism subtype

by  /  3 July 2014

CHD8, a gene that regulates the structure of DNA, is the closest thing so far to an ‘autism gene,’ suggests a study published today in Cell. People with mutations in this gene all have the same cluster of symptoms, including autism.

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Genetics: Changes in gene expression linked to father’s age

by  /  1 July 2014

Mice with older fathers have different gene expression patterns in their brains than do mice with younger fathers, reports a study published 23 March in Molecular Autism. Many of the differences involve genes linked to autism.

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June 2014

Genetics: New variants linked to intellectual disability

by  /  17 June 2014

Newly discovered mutations in a gene called SETD5 caused intellectual disability and autism-like symptoms in seven children, according to a study published 3 April in The American Journal of Human Genetics.
 

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List of gene ‘hot spots’ is rich with autism mutations

by  /  16 June 2014

Researchers have identified nearly 4,000 genetic regions that may be critical for brain function, and harbor mutations involved in disorders such as autism, they reported 25 May in Nature Genetics.

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What constitutes ‘environmental’ risk for autism?

by  /  11 June 2014

If inherited risk for autism is 50 percent, does that make the remaining half of risk environmental? Scientists clarify a large population study.

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How to evaluate new medications for autism

by  /  10 June 2014

There are no available medications for treating autism’s core symptoms, but there are several candidates in clinical trials. Jeremy Veenstra-VanderWeele describes the factors researchers must take into account when developing drugs for the disorder.

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Great sequencing power — great responsibility

by ,  /  6 June 2014

Chris Gunter and Daniel MacArthur discuss guidelines for assessing the evidence that a genetic variant causes autism or another disorder.

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Genetics: Gene linked to adult regression implicated in Rett

by  /  3 June 2014

A teenage girl with Rett syndrome has a mutation in WFR45, a gene that is mutated in people who abruptly lose motor and mental skills in adulthood, according to a study published 13 March in the Journal of Human Genetics.

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Large study underscores role of gene copy number in autism

by  /  2 June 2014

People with autism tend to carry mutations that duplicate or delete several genes at once, according to a large study published 1 May in the American Journal of Human Genetics.

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May 2014

Environment, genetics may contribute equally to autism risk

by  /  22 May 2014

A large study of autism in Swedish families suggests that about half of the risk for autism comes from genetics and the other half from environmental factors, researchers reported 7 May in The Journal of the American Medical Association. However, the mathematical model the study used may not be appropriate for evaluating autism risk, experts say.

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