In recent years, the Pogo transposable element derived with ZNF domain (
POGZ) gene has been identified as one of the most well-supported genes contributing to risk for autism spectrum disorder (ASD) (Satterstrom et al.,
2020), as part of the White Sutton syndrome (Matsumura et al.,
2020; Stessman et al.,
2016)
. The encoded heterochromatin protein contains zinc fingers that include a DDE domain thought to regulate gene expression. Induced
de novo mutations impaired neuronal development in mice (Matsumura et al.,
2020) and several studies have noted neurodevelopmental disorders, including microcephaly, sensorineural hearing loss, and epilepsy (Dentici et al.,
2017; Samanta et al.,
2020). To date, more than 50 patients have been reported in the literature with variants in various locations on
POGZ and corresponding phenotypic features. …
