A novel pathogenic variant of DRD4 gene in attention-deficit hyperactivity disorder - A case report

Attention-deficit hyperactive disorder is a chronic condition. The contribution of genetic factor is significant and the importance of genetic evaluation is increasing drastically with the availability of high-throughput genetic technologies. The case study reports the novel frameshift variant c.52_62del in DRD4 gene which has not been reported previously as a pathogenic variant nor as a benign variant, to the best of our knowledge.