Article

Characterizing the molecular impact of<i>KMT2D</i>variants on the epigenetic and transcriptional landscapes in Kabuki Syndrome

2022-10-28

Abstract excerpt

<h4>SUMMARY</h4> 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 rem...

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Literature Corpus work: ba0282d3-f9bf-5543-aecf-7f9dbdc3efc1
DOI: 10.1101/2022.10.25.22280882

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