Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

Original research article by T. Kleefstra et al. (2012).

Read the abstract here.

Kleefstra syndrome spectrum (KSS) is a rare genetic disorder whose characteristics include intellectual disability, low muscle tone, and distinctive facial features. Until this study, the only gene known to be associated with KSS was EHMT1—but not everyone with the syndrome has changes in this gene. In this study, the researchers sought to identify the cause of KSS in people who did not have a change in EHMT1. They found changes in MBD5, MLL3, SMARCB1, and NR113.