De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review

The PHF21A gene is an important gene within the 11p11.2 region that encodes PHD finger protein 21A, which mediates the repression of neuron-specific genes through the cis-regulatory element repressor element-1 (RE1) or neural restrictive silencer (NRS) [1]. One study showed that the injection of zebrafish embryos with morpholinos against the PHF21A gene resulted in both neuronal apoptosis and craniofacial abnormalities. In addition, the study identified 3 patients with balanced translocations disrupting the PHF21A gene.

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