Males, but not females, with neurodevelopmental disorders such as autism are more likely to have deletions or duplications in the 16p13.11 chromosomal region than controls are, according to a study published 18 April in PLoS One.
Children with autism have more copies of some chromosomal regions than controls do, according to a study published 19 April in Human Molecular Genetics. This is true even after excluding the regions that are the most likely to lead to autism.
Intellectual disability, autism, epilepsy and schizophrenia should be considered part of a spectrum of developmental brain dysfunction, says David Ledbetter.
Chromosomal duplications or deletions may influence autism-linked genes indirectly, by altering fragments of RNA that regulate gene expression, according to a study published 25 February in PLoS One.
Young children with autism have higher rates of obesity than the general population, says a study published 13 March in Childhood Obesity.
A rare deletion on chromosome 16 is more common in individuals who have schizophrenia than in controls, according to a large genetics study published 16 January in JAMA Psychiatry. This region is close to 16p11.2, implicated in both autism and schizophrenia.
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 The unpublished work was presented in a poster last week at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California.
Chromosomal microarray is more sensitive than the current gold-standard method for detecting genetic abnormalities in a fetus. But the technology isn’t yet ready for use in all pregnant women.
The loss of a 600-kilobase region on chromosome 16 leads to intellectual disability, obesity, a large head and, sometimes, autism, according to a study published in the October issue of the Journal of Medical Genetics.
Sharing data and tools is universally efficient, but the study of autism in particular presents challenges that can benefit from an open-science framework, says Randy Buckner.