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Vertebral malformations (VMs) pose a significant global health problem, causing chronic pain and disability. Vertebral defects occur either as isolated conditions or as part of various congenital disorders, such as Klippel–Feil syndrome, congenital scoliosis, spondylocostal dysostosis, sacral agenesis, and neural tube defects. Although both genetic abnormalities and environmental factors can contribute to abnormal vertebral development, our understanding of the molecular mechanisms underlying many VMs remains limited. Furthermore, there is a lack of resources that consolidate current knowledge in this field.
In this review, a comprehensive analysis of the latest research on the molecular basis of VMs and the association of VM-related causative genes with bone developmental signaling pathways is provided. This study identifies 118 genes linked to VMs, with 98 of them involved in biological pathways crucial for vertebral column formation. Overall, the review summarizes current knowledge on VM genetics and provides new insights into the potential involvement of biological pathways in VM pathogenesis. Additionally, an overview of available data on the role of epigenetic and environmental factors in VMs is provided.
Areas where knowledge is lacking are identified, such as the precise molecular mechanisms through which specific genes contribute to VM development. Finally, future research avenues that could address these knowledge gaps are proposed.
Read the full article here.