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Spectrum: Autism Research News

Tag: de novo mutations

December 2019

Notable papers in autism research in 2019

by  /  23 December 2019

This year’s top papers deepen our understanding of autism’s genetics and reveal mixed results from trials of autism therapies.

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a young girl has her height measured by a woman

Top autism gene tied to unusual skull, skeletal growth

by  /  12 December 2019

People with mutations in CHD8, a top autism gene, tend to be tall and have large heads.

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November 2019

Mutations in emerging autism gene tied to distinct traits

by  /  27 November 2019

People who have mutations in a gene called PHF21A tend to have a constellation of traits and conditions, including autism.

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Strand of DNA with bases being deleted

Autism-linked gene variants increase odds of attention deficit

by  /  18 November 2019

A collection of rare genetic variants associated with autism and schizophrenia also seem to increase a person’s odds of having attention deficit hyperactivity disorder.

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October 2019
four panels show mouse neurons showing abnormalities

New gene linked to autism, neuron development

by  /  30 October 2019

Mutations in the gene CSDE1 lead to a constellation of developmental delays and conditions, including autism, according to a new study.

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Mouse shows friendliness to all mice, friends or strangers

What two rare ‘social’ syndromes reveal about autism

by  /  21 October 2019

Studying Smith-Magenis and Potocki-Lupski syndromes — two single-gene conditions in which people have trouble reading social cues — may boost our understanding of autism.

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Breaks in long genes may underpin some forms of autism

by  /  20 October 2019

Neurons derived from autistic people with enlarged brains show extensive damage to long genes.

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September 2019
colorful micrograph of cells dividing

Whole-genome study lifts veil on inheritance patterns in autism

by  /  19 September 2019

An analysis of whole-genome sequences from nearly 500 families has implicated 16 new genes in autism.

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Older father carries son in reed baseball cap

Mutations in sperm may accrue too slowly to increase autism risk

by  /  5 September 2019

A new analysis challenges the idea that mutations in the sperm of older fathers lead to higher rates of autism among their children.

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July 2019
Family together in kitchen, showing three generations

Majority of autism risk resides in genes, multinational study suggests

by  /  17 July 2019

About 81 percent of autism risk comes from inherited genetic factors, according to an analysis of more than 2 million children from five countries.

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