Scientific Article
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Directly KS related
Combined loss of histone methyltransferases GLP and G9a disrupts neural crest cell fate determination
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Diana B. Voss, et al
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Aug 13, 2026
Researchers studied how loss of the histone methyltransferases GLP (EHMT1) and G9a (EHMT2) affects neural crest development in mice. Combined loss reduced H3K9me2 and disrupted cell fate, causing cleft palate, skull defects and congenital heart abnormalities. Because EHMT1 mutations cause Kleefstra syndrome, the findings suggest altered neural crest differentiation may contribute to some craniofacial and cardiovascular features of KS.
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