Haploinsufficiency of ARID1B, a member of the SWI/SNF-A chromatin-remodeling complex, is a frequent cause of intellectual disability
Original research article by J. Hoyer et al. (2012).
Read the abstract here.
Nearly 2,000 people in Germany were screened for small changes in their chromosomes. One child was found to have a small deletion on chromosome 6. This deletion encompassed five genes, and ARID1B was one of them. Subsequent research testing in over 800 children with ID identified ARID1B as a gene that causes intellectual disability, specifically in people who have a 6q25.3 deletion. Nine children from the group of over 800 were found to have ARID1B changes. Below are summarized the features observed in these children.
All nine children with ARID1B changes had some type of developmental delay (for example, some walked later than average) and were shorter than average. Most had low muscle tone (hypotonia), speech delay, and subtle differences in their facial features. Some had seizures (3/9), congenital heart defects (2/9), hearing loss (1/9), structural brain differences (3/9), and/or cleft palate (1/9).