Genetics

Methylomic Analysis of Monozygotic Twins Discordant for Autism Spectrum Disorder and Related Behavioural Traits

Submitted by djohnson on April 23, 2013 - 12:39
Source: 
Molecular Psychiatry
Link: 
http://www.nature.com/mp/journal/vaop/ncurrent/full/mp201341a.html
Date Published: 
April 23, 2013
Abstract: 

This study suggests environmentally driven changes to the epigenome may contribute to the development of ASD and ASD-related behaviors. The study, which involved identical twins who were discordant for ASD and related traits, is the first large-scale examination of the role of genome-wide DNA methylation in ASD.

De novo mutations in human genetic disease.

Submitted by nlombardi on April 7, 2013 - 13:46
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22805709
Date Published: 
July 18, 2012
Abstract: 

New mutations have long been known to cause genetic disease, but their true contribution to the disease burden can only now be determined using family-based whole-genome or whole-exome sequencing approaches.

Global Increases in Both Common and Rare Copy Number Load Associated with Autism

Submitted by djohnson on April 4, 2013 - 17:23
Source: 
Human Molecular Genetics
Link: 
http://hmg.oxfordjournals.org/content/early/2013/03/26/hmg.ddt136.abstract
Date Published: 
March 27, 2013
Abstract: 

Penn State researchers link autism to increased genetic change in "hotspots", regions of the genome that are highly susceptible to mutation.

Autism Risk Across Generations A Population-Based Study of Advancing Grandpaternal and Paternal Age

Submitted by djohnson on March 28, 2013 - 09:15
Source: 
JAMA Psychiatry
Link: 
http://archpsyc.jamanetwork.com/article.aspx?articleid=1666654
Date Published: 
March 20, 2013
Abstract: 

Recently published in JAMA Psychiatry, this study put forth a new autism risk factor: advanced grandpaternal age. Compared to men who had children between 20 and 24, men who fathered a child at 50+ were 1-2 times more likely to have a grandchild with autism. The findings suggest some autism risk factors can accumulate over generations.

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Submitted by nlombardi on March 26, 2013 - 16:17
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22495309
Date Published: 
April 4, 2012
Abstract: 

Results indicate extreme locus heterogeneity but also provide a target for future discovery, diagnostics and therapeutics.

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Submitted by nlombardi on March 25, 2013 - 17:24
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22495311
Date Published: 
April 4, 2012
Abstract: 

Control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors.

Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder.

Submitted by nlombardi on March 25, 2013 - 17:20
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22930557
Date Published: 
October 2012
Abstract: 

Results demonstrate a novel paradigm by which specific POPs may predispose to genetic copy number variation of 15q11-q13.

CNVs: harbingers of a rare variant revolution in psychiatric genetics.

Submitted by nlombardi on March 25, 2013 - 17:17
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22424231
Date Published: 
March 16, 2012
Abstract: 

CNV studies reflects the nature of rare alleles in general and will serve as a guide as we move forward into a new era of whole-genome sequencing.

De novo gene disruptions in children on the autistic spectrum.

Submitted by nlombardi on March 25, 2013 - 16:50
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22542183
Date Published: 
April 26, 2012
Abstract: 

FMRP-associated genes are under greater purifying selection than the remainder of genes and suggest they are especially dosage-sensitive targets of cognitive disorders.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Submitted by nlombardi on March 25, 2013 - 16:46
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/21996756
Date Published: 
April 2012
Abstract: 

Findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.