Small regions of DNA that are structurally prone to deletions and duplications are unlikely to play a major role in autism, according to research published 7 February in the American Journal of Human Genetics.
Individuals who have childhood-onset schizophrenia carry more DNA deletions and duplications associated with other disorders, such as autism, than their unaffected siblings do. The unpublished research was presented 16 January at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California.
SFARI director Gerald Fischbach comments on the year’s most notable papers.
Solving the riddle of autism genetics will require looking beyond the growing list of candidate genes to epigenetics and personalized medicine.
Watch the complete replay of Stephan Sanders’ webinar on exome sequencing and autism risk genes. Submit your own follow-up questions.
By merging genetic data from two large clinical repositories, from a total of more than 30,000 children, researchers have identified 18 copy number variants (CNVs) — DNA deletions or duplications — that play a role in autism. The findings appeared 9 October in Molecular Psychiatry.
A new candidate gene for autism, CHD8, may account for up to 0.4 percent of cases of the disorder, according to research published today in Science. CHD8 is one of six genes identified that together may contribute to one percent of autism cases.
Individually, common genetic variants confer little risk for autism. But taken together, they may contribute significantly, predicts a statistical analysis published 15 October in Molecular Autism.
Several lines of converging evidence suggest that low-density lipoprotein receptor-related protein 2 (LRP2), which is involved in early patterning of the brain, is a risk gene for autism.
Parents enroll their children in genetic research studies because of the opportunities to meet other families in the same situation, take control of their circumstances, and validate the medical nature of their child’s condition, according to a report published 11 July in the Journal of Autism and Developmental Disorders.