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

What is it about?

The authors describe a novel genetic syndrome caused by heterozygous mutations in the TNRC6B gene, which encodes for a protein important for RNA silencing. The syndrome is characterized by a recurrent neurobehavioral phenotype featuring developmental delay/intellectual disability, autism, attention deficit hyperactivity disorder, and other behavioral abnormalities. The patients also exhibit musculoskeletal findings and a few of them have congenital malformations. The majority of patients exhibited some dysmorphic features but no recognizable gestalt was identified. The authors provide evidence that loss of function is the most likely pathogenic mechanism, but the underlying molecular pathways that lead to the neurocognitive abnormalities are unknown and have yet to be fully elaborated. Further characterization of larger cohorts of patients with TNRC6B variants is needed and understanding the molecular mechanisms is essential to ultimately develop therapeutic interventions for patients with this disorder.

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