Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Original research article by A. Rauch et al. (2012).

Read the abstract here.

The SYNGAP1 gene plays an important role in the brain’s development. Changes in this gene have been previously linked to intellectual disability, and this study confirms that finding. The researchers suggest that changes in the SYNGAP1 gene may be found in as many as 2% of children with non-specific intellectual disability. Changes in this gene are not often inherited.