A novel de novo variant in the PHF21A causes craniofacial abnormalities, intellectual disability and skeletal manifestations

Abstract

IDDBCS is a heterogeneous genetic syndrome with diverse clinical features including Intellectual disability and epilepsy. Using WES, Sanger sequencing, we identified a novel nonsense variant in the PHF21A gene responsible for IDDBCS syndrome. The patient has diverse and overlapping clinical phenotypes. The identified variant leads to abnormal secondary and tertiary structure of the protein and, consequently, affects its function.

Keywords: PHF21A; craniofacial abnormality; denovo; intellectual disability; nonsense variant.