Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome (Cell Reports)

Cheng et al. generated a mouse model of Börjeson-Forssman-Lehmann syndrome containing a patient-specific mutation of PHF6. PHF6 knockin mice display cognitive impairments, neuronal hyperexcitability, and seizure susceptibility. PHF6 promotes neurogenic and repressed synaptic genes in the cortex. This study advances understanding of the cellular and molecular underpinnings of BFLS.