P721: Functional analysis of two JAG1 missense variants in Alagille syndrome

The Notch signaling pathway is essential for cellular development and immune system function. Pathogenic variants in JAG1, encoding the ligand Jagged1 of the Notch pathway, lead to Alagille syndrome (ALGS), a genetic disorder characterized by bile duct paucity and multi-organ abnormalities. While ALGS is typically associated with JAG1 haploinsufficiency due to null variants, the pathogenicity of missense variants remains unclear, complicating diagnosis.