Autism Genome Project

  title={Autism Genome Project},
  author={Magdalena Skipper},
  journal={Nature Reviews Genetics},
  • M. Skipper
  • Published 1 September 2004
  • Biology
  • Nature Reviews Genetics
The human genome is littered with small-scale genetic variants, such as SNPs and repeat-length polymorphisms, but little is known about the way in which variants involving larger regions contribute to genetic diversity. Two studies now reveal that large deletions and duplications are more common than was previously thought, prompting a re-evaluation of the way we view human genetic variation. Large-scale copy-number polymorphisms/variants (CNPs/LCVs) — deletions or duplications of chromosomal… 
32 Citations
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
A significantly higher burden in the number and size of deletions is identified, and evidence of genetic overlap between ASDs and other neurodevelopmental and neuropsychiatric diseases is found, finding a few of the missing pieces of ASD heritability and lead to discovering novel etiological mechanisms.
Structural variation in the human genome: the impact of copy number variants on clinical diagnosis
The literature from the past 3 years is reviewed on this new source of genomic variability and factors that should be considered when trying to differentiate between a pathogenic and a benign copy number variant.
Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder
The power of massively parallel, targeted sequencing studies of affected individuals for identifying rare, potentially disease-contributing variation is demonstrated, but the challenges and limitations of current methods of direct functional testing of rare variants and the difficulties of identifying alleles with modest effects are pointed out.
Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD
Support for a role for rare CNVs in ADHD risk is provided and evidence for the existence of common underlying susceptibility genes for ADHD, ASD, and other neuropsychiatric disorders is reinforced.
Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting
Preliminary guidelines for management and anticipatory care of families with this microduplication of 3q29 are provided, thereby establishing a standard for CNV reporting.
Molecular and clinical characterization of de novo and familial cases with microduplication 3q29
C cases from four families, two ascertained in Toronto (Canada) and one each from Edinburgh and Leiden, carrying microduplications of 3q29 are presented, suggesting that dosage sensitivity of genes located within 3q 29 is important for eye and CNS development.
Analysis of Copy Number Variation in Alzheimer’s Disease in a Cohort of Clinically Characterized and Neuropathologically Verified Individuals
Case-control association identified a number of previously reported regions (CHRFAM7A, RELN and DOPEY2) as well as a new gene (HLA-DRA), and meta-analysis of CHRFAM 7A indicated a significant association of the gene with AD and/or MCI risk.
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder
This work supports the idea that the functional alteration of genes in related neuronal networks is involved in the etiology of the ASD phenotype and confirms a significant diagnostic yield for aCGH, which should probably be included in the diagnostic workup of idiopathic ASD.
A Noncoding RNA Antisense to Moesin at 5p14.1 in Autism
The researchers found that MSNP1AS levels were strongly increased in postmortem brain samples from people with ASD compared to those without; furthermore, these higher levels correlated with the presence of the genetic marker for increased ASD risk, suggesting that the noncoding RNA MS NP1AS may play a role in reducing moesin protein.