Scientific Article 🇬🇧 Directly KS related

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

person Tjitske Kleefstra et al., The American Journal of Human Genetics

calendar_today Jul 13, 2012

This research article studied people with Kleefstra syndrome phenotypic spectrum who lacked EHMT1 mutations. Researchers found de novo mutations in MBD5, MLL3, SMARCB1 and NR1I3, genes involved in chromatin regulation, and used Drosophila models to show several cooperate with EHMT1. It supports an EHMT1-related epigenetic network in intellectual disability; treatment ideas remain proposed.