question: What is caused by de novo sox6 variants?
answer: SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. De novo variants of the SOX6 gene have been identified in a large family with a complex phenotype variably associating attention-deficit/hyperactivity disorder (ADHD) with craniosynostosis, hearing impairment, developmental delay and carpal and tarsal fusions.