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Spectrum: Autism Research News

Tag: 16p11.2

May 2021
brainstem of rats in red, green and blue highlight higher levels of GABA.

GABA agonist rescues auditory hypersensitivity in rats missing autism-linked gene CNTNAP2

by  /  3 May 2021

The investigational drug arbaclofen may right an imbalance between inhibitory and excitatory signaling in the animals’ brains.

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April 2021
Mouse brains carrying CUL3 gene mutation reveal unusually thin cortical tissue.

Neuron ‘skeleton’ may explain impact of autism-linked gene mutation

by  /  16 April 2021

Mutations in CUL3, a gene strongly linked to autism, may cause differences in brain structure by disrupting cytoskeleton proteins, according to a new study.

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Micrograph comparing locus coeruleus of 16p11.2 mutant mice and control mice show less active noradrenergic neurons in mutant mice.

Circuit flaw underlies motor learning issues in autism mouse model

by  /  12 April 2021

Mice missing a copy of chromosomal region 16p11.2 are slow to learn motor tasks and have dysfunction in a brain circuit associated with stress and movement, according to a new study. Normalizing this circuit’s activity corrects the learning deficit.

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February 2021
Heatmap plot showing how each genetic variant plus autism group differed.

Copy number variations linked to autism have diverse but overlapping effects

by  /  1 February 2021

People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for autism.

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November 2020
Brain diagrams showing connectivity within different regions.

Gene mutations point to overlaps in brain connectivity for autism, schizophrenia

by  /  30 November 2020

People who have large mutations associated with autism and schizophrenia share atypical patterns of brain connectivity, according to a new study, especially between areas that process sensory information.

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August 2020
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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December 2019
red blood cells

Gene repeats tied to autism may prevent anemia

by  /  9 December 2019

Extra copies of a gene called BOLA2 predispose people to autism and may protect against iron deficiency.

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November 2019
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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August 2019
Spiral DNA against a dark background

Patterns of DNA tags mark candidate genes for autism

by  /  15 August 2019

Children with autism who carry mutations in the chromosomal region 16p11.2 or the gene CHD8 — two of the leading risk factors for autism — show distinct patterns of chemical tags on their DNA.

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May 2019
A DNA helix showing common and rare variants

The multiple hits theory of autism, explained

by  /  1 May 2019

Researchers are studying how a combination of genetic ‘hits’ may contribute to autism’s diversity.

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