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Ehmt2 Loss-Of-Function Alterations Cause A Kleefstra-Like Syndrome

2024-01-11 genetic and genomic medicine Title + abstract only
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Dysregulation of the epigenetic machinery is associated with neurodevelopmental defects in humans. Kleefstra syndrome (KS) is a neurodevelopmental syndrome caused by heterozygous alterations in the gene EHMT1 that cause loss-of-function. EHTM1 and EHMT2 are highly similar histone methyltransferases that play relevant roles in development. Despite their similarity, individuals with alterations in EHMT2 have never been described. Here, we describe a pediatric patient with a KS-overlapping phenotyp...

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