Congenital Scoliosis (CS) is the most common congenital spinal disorder caused by congenital vertebral malformations (CVMs), affecting approximately 0.5 to 1 in 1,000 live births. CS is influenced by genetic and environmental factors and exhibits diverse clinical presentations.

A collaborative research team led by Prof. Gao Bo from the School of Biomedical Sciences, Faculty of Medicine, CUHK and Dr. Nan Wu from Peking Union Medical College Hospital, in collaboration with spine surgeons and scientists from the LKS Faculty of Medicine of HKU, Keio University, Japan, and Baylor College of Medicine, USA, has uncovered a novel pathogenic mechanism for CS. The related findings have been published in the Proceedings of the National Academy of Sciences (PNAS): https://www.pnas.org/doi/10.1073/pnas.2310283121

By combining genetic analyses of a large multi-center CS patient cohort and extensive mechanistic studies, Prof. Gao and Dr. Wu’s team identified the critical roles of Vangl1 and Vangl2, two core components in the Wnt/planar cell polarity (Wnt/PCP) signaling pathway, in vertebral development and in predisposition to CVMs in CS patients. They found that in Vangl mutant mouse models, the CVMs present in a Vangl gene dose-and gestational hypoxia-dependent manner. Their studies reveal a complex etiology of CS and its association with Wnt/PCP signaling.