The offspring of older male mice are 16 times more likely to harbor a spontaneous copy number variation — a deletion or duplication of genetic material — than are the offspring of young males, according to a new study.
Spectrum: Autism Research News
Tag: de novo mutations
Individuals with a duplication of a chromosomal region associated with autism and intellectual disability are at higher risk for low birth weight, restricted eating leading to extreme thinness, and smaller-than-average head size.
Harmful spontaneous mutations may account for up to half the cases of non-inherited schizophrenia.
Some of the same genetic risk factors may underlie both autism and attention deficit hyperactivity disorder, according to a study published 10 August in Science Translational Medicine.
The first study to sequence more than 100 genes on the X chromosome in people with autism or schizophrenia has turned up some promising leads.
A new study of twins proposes the controversial claim that environmental influences during early development are just as, if not more, important than genetics. But the findings are not substantially different from those of previous twin studies, however, and some experts are critical of the study’s statistics.
Spontaneous and inherited mutations in SHANK3 both inhibit the protein’s role at synapses, the junctions between neurons, according to a study published 24 May in Molecular Psychiatry.
Three new studies analyzing genetic data from families in which just one child has autism have found the strongest evidence yet that rare new mutations contribute to the disorder.
Individuals with intellectual disability are more likely than controls to have harmful mutations in autism candidate genes, according to a study published 11 March in the American Journal of Human Genetics.