Genetics

Genetic Architecture in Autism Spectrum Disorder.

Source: 
Current Opinion in Genetics and Development
Date Published: 
June 2012
Abstract: 

Biological pathways revealed by the deeper list of ASD genes should narrow the targets for therapeutic intervention.

The genetic variability and commonality of neurodevelopmental disease.

Source: 
PubMed
Date Published: 
May 15, 2010
Abstract: 

Recent genetic studies have revealed some common themes: considerable locus heterogeneity, variable expressivity for the same mutation, and a role for multiple disruptive events in the same individual affecting genes in common pathways.

Autistic-like Behaviour and Cerebellar Dysfunction in Purkinje cell Tsc1 Mutant Mice.

Source: 
Nature
Date Published: 
August 30, 2012
Abstract: 

Researchers found molecular basis for a cerebellar contribution to cognitive disorders such as autism.

Autism-associated promoter variant in MET impacts functional and structural brain networks.

Source: 
PubMed
Date Published: 
Sept. 6, 2012
Abstract: 

Findings highlight how genetic stratification may reduce heterogeneity and help elucidate the biological basis of complex neuropsychiatric disorders such as ASD.

Mutations in BCKD-kinase Lead to a Potentially Treatable form of Autism with Epilepsy.

Source: 
Science
Date Published: 
Oct. 19, 2012
Abstract: 

Researchers identified inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intellectual disability.

Focal Seizures with Affective Symptoms are a Major Feature of PCDH19 Gene-Related Epilepsy.

Source: 
Epilepsia
Date Published: 
December, 2012
Abstract: 

Most patients with PCDH19 mutations exhibit a distinctive electroclinical pattern of focal seizures with affective symptoms, suggesting an epileptogenic dysfunction involving the frontotemporal limbic system. Awareness of this distinctive phenotype will likely enhance recognition of this disorder.

Mother's Drive Helps Research on Rare Autism-linked Mutation

Source: 
SFARI
Date Published: 
March 14, 2013
Abstract: 

A mother with two sons with autism helps advance research on neuroligin-4 mutations.

Changes to Children's Study Threaten its Value, Experts Say

Source: 
SFARI
Date Published: 
March 7, 2013
Abstract: 

Autism researchers and advocates are concerned about changes to the recruitment strategy of the National Children’s Study, which aims to enroll 100,000 pregnant women, monitor environmental exposures, and examine gene-environment interactions in the women and their children. The changes, which include forgoing door-to-door recruitment, may limit the generalizability of the findings.

Oxytocin and Vasopressin in Children and Adolescents With Autism Spectrum Disorders: Sex Differences and Associations With Symptoms

Source: 
Autism Research and Treatment
Date Published: 
February 14, 2013
Abstract: 

Following positive results of treatment studies using oxytocin (OT) and evidence of genetic variations in the OT-arginine vasopressin (AVP) pathway in individuals with ASD, a new study from UC Berkeley further examines the involvement of OT and AVP in ASD. Results suggest levels of OT in individuals with ASD may not be as low as previously believed. Moreover, the researchers found significant gender differences, including higher levels of OT in girls and higher levels of AVP in boys.

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.