A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Original research article by Helsmoortel C., et al. (2014).
Read the abstract here.
A person’s DNA is continually remodeled and repackaged throughout life. Many genes are involved at different steps in the process. ADNP is one of those genes. It works with a group of proteins called SWI/SNF. Genes involved in the remodeling and repackaging process, called chromatin remodeling, are an area of increasing interest for autism researchers. The authors estimate that a damaging gene change in ADNP occurs in at least 0.17% of autism cases. This makes it one of the more common genes that were known to be associated with autism at the time the article was published, in April 2014. Participating in the study were 5,776 people with intellectual disability. A test called whole-exome sequencing was used to screen for a genetic cause of their intellectual disability. In this large group, 10 people were found to have changes in ADNP, one of whom had been identified through the Simons Simplex Collection.
These 10 people are described in this study. All 10 have a diagnosis of autism. They all have some degree of intellectual disability, ranging from mild to severe. Three have congenital heart defects, two have seizures, and at least six children have vision problems (they are far-sighted). Several of them have brain differences that were identified by an MRI test, behavior issues (some with ADHD), concerns with extremely flexible joints (called hyperlaxity), recurrent infections, feeding problems, and/or shorter-than-average height. Two people also had insensitivity to pain and GI issues like constipation.