Article
Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.
Human molecular genetics - 19 Jun 2023
Jung Youngsook L, Hung Christina, Choi Jaejoon, Lee Eunjung A, Bodamer Olaf
Abstract excerpt
Kabuki syndrome (KS) is a rare, multisystem disorder with a variable clinical phenotype. The majority of KS is caused by dominant loss-of-function mutations in KMT2D (lysine methyltransferase 2D). KMT2D mediates chromatin accessibility by adding methyl groups to lysine residue 4 of histone 3, which plays a critical role in cell differentiation and homeostasis. The molecular underpinnings of KS remain elusive...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.