Deletion, duplication of chromosome 16 segment may confer same autism risk
Autism may be just as common among children missing a segment of chromosome 16 as it is in those with an extra copy.
Autism may be just as common among children missing a segment of chromosome 16 as it is in those with an extra copy.
An analysis of spontaneous mutations in nearly 11,000 individuals with developmental delay or autism implicates 49 new genes.
Genetic tests for people with autism are far from routine and don’t always yield results, but the information they offer can change lives.
A cellular pathway that helps neurons grow and move during fetal development may drive the changes in head size in some autistic people.
Clusters of brain cells — so-called ‘mini-brains’ grown in the lab — may help researchers understand how large stretches of duplicated or deleted DNA affect the brain.
Genes linked to autism in sequencing studies tend be located in long stretches of DNA that are duplicated or missing in some people with developmental conditions.
People who have a mutation linked to autism plus a second genetic glitch tend to have more severe symptoms than those with the mutation alone.
The absence of several interacting genes may underlie the developmental problems seen in people missing a segment of chromosome 16.
New results implicate an enzyme called ERK in the consequences of missing a segment of chromosome 16.
About 10 percent of people with a large mutation in chromosome 22 have autism, attention deficit hyperactivity disorder or intellectual disability.