Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

Kamal Khan Michael ZechAngela T MorganDavid J Amor Matej SkorvanekTahir N KhanMichael S HildebrandVictoria E Jackson Thomas S ScerriMatthew ColemanKristin A RigbyeIngrid Eileen Scheffer Melanie Bahlo Matias Wagner Daniel D LamRiccardo BeruttiPetra HavránkováAnna FečíkováTim M StromVladimir HanPetra DosekovaZuzana GdovinovaFranco LacconeMuhammad JameelMarie R Mooney Shahid Mahmood BaigRobert JechErica E DavisNicholas KatsanisJuliane Winkelmann

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

Our aggregate data support a role for ZNF142 in nervous system development and add to the emergent list of zinc finger proteins that contribute to neurocognitive disorders.

Keyphrases

intellectual disability
autism spectrum disorder
deep brain stimulation
early onset
electronic health record
copy number
big data
bipolar disorder
oxide nanoparticles
gene expression
machine learning
artificial intelligence
deep learning
temporal lobe epilepsy