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De novo EHMT2 variants cause an autosomal dominant EHMT2 -related Kleefstra syndrome via loss of G9a methyltransferase activity

2025-09-25

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EHMT1 and EHMT2 genes encode human euchromatin histone lysine methyltransferase 1 and 2 (EHMT1 alias GLP; EHMT2 alias G9a) that form heteromeric GLP/G9a complexes with essential roles in epigenetic regulation of gene expression. While EHMT1 haploinsufficiency has been established as the cause of Kleefstra syndrome 1, the pathogenesis of G9a dysfunction in human disease remains largely unknown. We identified seve...

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Literature Corpus work: d39afca6-cfed-5431-a498-1692f3b21f07
DOI: 10.1101/2025.09.25.678439

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<i>De novo EHMT2</i> variants cause an autosomal dominant <i>EHMT2</i> -related Kleefstra syndrome via loss of G9a methyltransferase activity

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