Edition of 20 December 2019

A recent study published in the Genetics in Medicine identified seven affected females in four pedigrees with likely pathogenic variants in ZNF142 that segregate with recessive disease. Affected cases in three families harbored either nonsense or frameshifting likely pathogenic variants predicted to undergo nonsense mediated decay. One additional trio bore ultrarare missense variants in conserved regions of ZNF142 that are predicted to be damaging to protein function. Clinical comparisons across the cohort noted consistent presence of intellectual disability and speech impairment, with variable manifestation of seizures, tremor, and dystonia. The aggregate data supported a role for ZNF142 in nervous system development and added to the emergent list of zinc finger proteins that contribute to neurocognitive disorders