Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability< /strong> < /h2>

Original research article by T. Kleefstra et al. < /em> (2012) . < /p>

Read the abstract here< /a> . < /p>

Kleefstra syndrome spectrum (KSS ) < /strong>   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  EHMT1â € ”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< /strong> , MLL3, SMARCB1, and NR113. < /p>