Pathogenic variants in <i>TNRC6B</i> cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

Abstract

Variants in <i>TNRC6B</i> cause a novel genetic disorder characterised by recurrent neurocognitive and behavioural phenotypes featuring DD/ID, autism, ADHD and other behavioural abnormalities. Our data highly suggest that haploinsufficiency is the most likely pathogenic mechanism. <i>TNRC6B</i> should be added to the growing list of genes of the RNA-induced silencing complex associated with ID/DD, autism and ADHD.