Skip to main content

Tag: 16p11.2

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

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.

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

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.

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

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.

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

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.

0 Comments
November 2020
Brain diagrams showing connectivity within different regions.
News

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.

0 Comments
August 2020
Young child on her bed looking at a book.
News

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.

0 Comments
December 2019
red blood cells
News

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.

0 Comments
November 2019
Strand of DNA with bases being deleted
News

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.

0 Comments
August 2019
Spiral DNA against a dark background
News

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.

0 Comments
May 2019
A DNA helix showing common and rare variants
News

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.

0 Comments