The Manton Center for Orphan Disease Research at Boston Children’s Hospital of Harvard Medical School is currently enrolling individuals with KMT2E-related neurodevelopmental disease (KMT2E-NDD) towards continuing to publish case series to guide management of this condition. Through collecting clinical and genetic data from individuals with KMT2E-NDD, the study aims to better understand the genetic and phenotypic spectrum of the disorder. The study also aims to identify patterns of altered DNA methylation unique to KMT2E-NDD (i.e., an ‘episignature’), which can be used to help resolve variants of uncertain significance in KMT2E, improving the diagnostic accuracy of genetic testing for KMT2E-NDD. In addition, identifying patterns of altered DNA methylation can help pinpoint genes whose expression is altered in KMT2E-NDD, which can help us better understand the pathophysiological mechanisms underlying KMT2E-NDD. Information about this study is available by contacting gdc@childrens.harvard.edu.
KMT2E