RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome

The study identified mutations in the RBPJ gene in two families affected by Adams-Oliver Syndrome (AOS), a rare genetic disorder characterized by congenital scalp defects and limb anomalies. These mutations impaired the DNA binding ability of RBPJ, a key transcriptional regulator in the Notch signaling pathway, specifically in the HES1 promoter region. The findings provided new insights into the genetic basis of AOS, suggesting that RBPJ plays a crucial role in the development of the scalp and limbs, and highlighted the importance of genetic screening for accurate diagnosis and potential future therapies for AOS. The research was funded by an Oklahoma Medical Research Foundation Research Grant.