ZNF462 is a zinc finger transcription factor located on chromosome 9.2 that functions as a regulator of chr9 structure and transcription 12. In embryonic stem cells, ZNF462 regulates pluripotency and differentiation by controlling expression of SOX2, POU5F1/OCT4, and NANOG, and modulates neuronal development and neural cell differentiation 2. The protein binds PBX1 to prevent its heterodimerization with HOXA9 and subsequent DNA binding. Loss-of-function variants in ZNF462 cause Weiss-Kruszka syndrome (WSKA), an autosomal dominant congenital anomaly disorder with fewer than 40 reported cases 34. WSKA is characterized by developmental delay (79% of patients), distinctive facial features including ptosis (83%), down-slanting palpebral fissures (58%), and metopic ridging or craniosynostosis (33%), along with feeding difficulties, hypotonia, corpus callosum dysgenesis (25%), and cardiac defects (21%) 5. Haploinsufficiency rather than complete loss-of-function appears to drive the phenotype 36. Additionally, ZNF462 variants have been identified as potentially contributing to congenital hypogonadotropic hypogonadism, suggesting broader developmental roles 7. Emerging evidence suggests possible associations with autoimmune disease development, warranting further investigation 3.