Copy Number Variations

SFARI Gene

Source: 
SFARI
Date Published: 
February 21, 2013
Abstract: 

SFARI Gene is an integrated resource for the autism research community. It is a publicly available, curated, web-based, searchable database for autism research. This resource is built on information extracted from the studies on molecular genetics and biology of Autism Spectrum Disorders (ASD). The genetic information includes data from linkage and association studies, cytogenetic abnormalities, and specific mutations associated with ASD.

Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

Source: 
PLOS One
Date Published: 
January 14, 2013
Abstract: 

Researchers discover 25 new autism-linked copy number variants.

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

Source: 
Cell
Date Published: 
December 21, 2012
Abstract: 

UCSD researchers suggest genes linked to autism have higher mutation rates than other genes.

Rectifying Neuroligin Synthesis Reverses ASD Symptoms in Mice

Source: 
Nature
Date Published: 
November 21, 2012
Abstract: 

Abnormally high production of neuroligins, proteins involved in synapse formation, resulted in ASD symptoms in mice. Researchers reversed ASD symptoms by reducing neuroligin synthesis.

Postmortem Brain Analysis Points to Autism Candidate Genes

Source: 
SFARI
Date Published: 
October 16, 2012
Abstract: 

Unpublished data presented at the 2012 Society for Neuroscience annual meeting show at least 30 genes show altered expression in brain tissue of people with autism. The ongoing study aims to include more samples than previous postmortem studies, and includes samples lost in Harvard’s freezer malfunction.

Using Large Clinical Data Sets to Infer Pathogenicity for Rare Copy Number Variants in Autism Cohorts

Source: 
Molecular Psychiatry
Date Published: 
October 9, 2012
Abstract: 

Copy number variants (CNVs) have a major role in the etiology of autism spectrum disorders (ASD), and several of these have reached statistical significance in case–control analyses. Nevertheless, current ASD cohorts are not large enough to detect very rare CNVs that may be causative or contributory (that is, risk alleles).

SFARI Reviews Mouse Models Used in Autism Genetics Research

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
September 25, 2012
Abstract: 

New genetic variants that increase susceptibility to autism are emerging at a rapid pace from scans for copy number variants (CNVs) — deletions or duplications of DNA segments — and next-generation sequencing. Given the profusion of data, it seems timely to assess the availability and usefulness of mouse models in which to study these genetic risk factors.

New Clinical Study Evaluates First Drug to Show Improvement in Subtype of Autism

Source: 
EurekAlert
Date Published: 
April 26, 2012
Abstract: 

In an important test of one of the first drugs to target core symptoms of autism, researchers at Mount Sinai School of Medicine are undertaking a pilot clinical trial to evaluate insulin-like growth factor (IGF-1) in children who have SHANK3 deficiency (also known as 22q13 Deletion Syndrome or Phelan-McDermid Syndrome), a known cause of autism spectrum disorder (ASD).

Mouse Model Provides Clues to Autism

Source: 
PsychCentral
Date Published: 
March 22, 2012
Abstract: 

Vanderbilt scientists report that a disruption in serotonin transmission in the brain may be a contributing factor for autism spectrum disorder (ASD) and other behavioral conditions.

Bone-marrow Transplant Reverses Rett Syndrome in Mice

Source: 
Nature Magazine
Date Published: 
March 17, 2012
Abstract: 

A bone-marrow transplant can treat a mouse version of Rett syndrome, a severe autism spectrum disorder that affects roughly 1 in 10,000–20,000 girls born worldwide (boys with the disease typically die within a few weeks of birth).