The discovery of microRNAs that regulate gene expression has changed our view of cellular biochemistry. It may also change our perception of neuropsychiatric disorders such as autism, says Peng Jin.
Research into the 22q11.2 chromosomal region, which is linked to both schizophrenia and autism, can provide important insights into how rare duplications and deletions may lead to neuropsychiatric disorders, says Maria Karayiorgou.
A boy with a rare deletion in chromosome 3 was diagnosed with autism and psychotic symptoms by age 5, according to a case report published 26 February in the American Journal of Medical Genetics Part A. He is the second identified individual with this deletion who has these symptoms, which are exceedingly rare in combination.
Loss of one copy of 22q11.2 — a chromosomal region linked to schizophrenia and autism — shifts the location of neurons that inhibit brain signals, according to a study published 6 November in Proceedings of the National Academy of Sciences.
Researchers have created a network of various forms of many proteins linked to autism, revealing new molecular interactions that may play a role in the disorder. The unpublished work was presented in a poster last week at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California.
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 The unpublished research was presented 16 January at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California.
Children with a deletion in the 22q11.2 chromosomal region have one of two distinct sets of symptoms, and only one of those is associated with autism, according to a study published 28 August in Research in Developmental Disabilities.
Trouble with theory of mind, or the ability to infer what other people think or believe, is one of the most well-known deficits in autism. Two new studies show that theory of mind is also lacking in people with autism-related syndromes.
About 1 in 500 children referred to genetic testing for undefined developmental delay, intellectual disability, or autism have duplications of the 15q11-13 chromosomal region, according to a new analysis. That makes the region the second most common large genetic alteration linked to autism.
An analysis of large duplications and deletions of DNA has identified new candidate genes for autism in pathways linked to the disorder. The results were published 22 May in Human Molecular Genetics.