Reviewing the Genetic and Molecular Foundations of Congenital Spinal Deformities: Implications for Classification and Diagnosis
Samarkhanova D. Zhabagin M. Nadirov N.
February 2025Multidisciplinary Digital Publishing Institute (MDPI)
Journal of Clinical Medicine
2025#14Issue 4
Congenital spinal deformities (CSDs) are rare but severe conditions caused by abnormalities in vertebral development during embryogenesis. These deformities, including scoliosis, kyphosis, and lordosis, significantly impair patients’ quality of life and present challenges in diagnosis and treatment. This review integrates genetic, molecular, and developmental insights to provide a comprehensive framework for classifying and understanding CSDs. Traditional classification systems based on morphological criteria, such as failures in vertebral formation, segmentation, or mixed defects, are evaluated alongside newer molecular-genetic approaches. Advances in genetic technologies, including whole-exome sequencing, have identified critical genes and pathways involved in somitogenesis and sclerotome differentiation, such as TBX6, DLL3, and PAX1, as well as key signaling pathways like Wnt, Notch, Hedgehog, BMP, and TGF-β. These pathways regulate vertebral development, and their disruption leads to skeletal abnormalities. The review highlights the potential of molecular classifications based on genetic mutations and developmental stage-specific defects to enhance diagnostic precision and therapeutic strategies. Early diagnosis using non-invasive prenatal testing (NIPT) and emerging tools like CRISPR-Cas9 gene editing offer promising but ethically complex avenues for intervention. Limitations in current classifications and the need for further research into epigenetic and environmental factors are discussed. This study underscores the importance of integrating molecular genetics into clinical practice to improve outcomes for patients with CSDs.
bone morphogenetic proteins (BMPs) , congenital scoliosis , congenital spinal deformities (CSDs) , embryonic development , genetic mutations , molecular classification , sclerotome differentiation , signaling pathways , somitogenesis
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National Center for Biotechnology, 010000, Astana, Kazakhstan
Department of Orthopedics, Mother and Child Health Center, University Medical Center, Astana, 010000, Kazakhstan
National Center for Biotechnology
Department of Orthopedics
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