Researchers have identified the genetic root of severe mitochondrial disorders in infants whose cases couldn’t be solved by standard genetic testing, according to research published last week in Science Translational Medicine.
Spectrum: Autism Research News
By focusing on recessive mutations inherited from both parents, researchers have identified 50 new candidate genes for intellectual disability.
Researchers have identified autism-linked mutations using a technique that can detect deletions or duplications of DNA spanning a single gene.
Children with autism carry many more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.
Harmful spontaneous mutations may account for up to half the cases of non-inherited schizophrenia.
A new analysis of children with autism and their unaffected parents provides the best evidence to date that mutations in multiple genes may work together to cause autism and related disorders.