A novel de novo POGZ mutation in a patient with intellectual disability

Tan et al., 2016: Reported a novel de novo mutation in POGZ in a child with unexplained intellectual disability. The identified variant was a frameshift predicted to truncate the POGZ protein. The patient’s features (developmental delay, hypotonia, friendly demeanor, and dysmorphic facial features) overlapped with those reported by White et al. (2016), further supporting POGZ truncations as the cause of a recognizable syndrome. This case provided independent confirmation soon after the initial description of White–Sutton syndrome and broadened the mutation spectrum of POGZ (different location of truncation). It reinforced the recommendation to include POGZ in genetic testing panels for intellectual disability.