Copy number variations, or CNVs — duplications or deletions of DNA segments — can influence the expression of unrelated genes on the same chromosome, according to a study published in November in PLOS Biology.
Spectrum: Autism Research News
Tag: intellectual disability
Scientists have created mice that carry mutations in SHANK3, one of the strongest candidate genes for autism. The animals have behavioral and neurobiological features reminiscent of autism, researchers reported 17 December in Molecular Autism.
Mice lacking one copy of a gene associated with Williams syndrome share the hyper-sociability of people with the disorder, according to a paper published online 3 December in Autism Research.
Most studies define high-functioning children as those with an IQ above 70 or 80, but this is problematic for a number of reasons, say some scientists. The assumption underlying the use of high IQ as a synonym for high functioning is suspect because social and communicative abilities may have a far greater impact on an individual’s daily interactions.
Spontaneous mutations that change a single DNA base account for a large proportion of cases of unexplained mental retardation, according to a study published in the December Nature Genetics.
Two independent groups have created mice that have deletions or duplications in a large section of chromosome 16. Each team has produced an animal with a different set of features, some of which — such as large head size and repetitive behaviors — are reminiscent of people with autism.
Individuals with a deletion in the 16p11.2 chromosomal region — which has been linked to autism in several studies — show features of autism spectrum disorders including language delay, according to a study published in October.
Deletion of the chromosomal region 17q12 dramatically increases the risk for autism and schizophrenia, according to a large study published last week in the American Journal of Human Genetics. Individuals missing this sizeable region are about 14 times more likely to develop one of those disorders, the study reports.
Ricardo Dolmetsch is making neurons from induced pluripotent stem cells derived from people with Timothy syndrome, a rare single-gene disorder that causes heart arrhythmias and autism. On Wednesday morning at the Society for Neuroscience annual meeting in San Diego, Dolmetsch talked to SFARI about how this approach could help autism research.