De novo loss‐of‐function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies

The cohesin complex is an evolutionarily conserved multi‐subunit protein complex which regulates sister chromatid cohesion during mitosis and meiosis. Additionally, the cohesin complex regulates DNA replication, DNA repair, and transcription. The core of the complex consists of four subunits: SMC1A, SMC3, RAD21, and STAG1/2. Loss‐of‐function mutations in many of these proteins have been implicated in human developmental disorders collectively...