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Review
Exploring the association between congenital vertebral malformations and neural tube defects
  1. Yongyu Ye1,
  2. Jianan Zhang2,3,
  3. Xin Feng4,
  4. Chong Chen1,
  5. Yunbing Chang1,
  6. Guixing Qiu5,6,
  7. Zhihong Wu5,6,
  8. Terry Jianguo Zhang5,6,
  9. Bo Gao3,7,
  10. Nan Wu5,6
  1. 1 Department of Orthopedic Surgery, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China
  2. 2 Department of Orthopaedics and Traumatology, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China
  3. 3 School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China
  4. 4 School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China
  5. 5 Department of Orthopedic Surgery, Key Laboratory of Big Data for Spinal Deformities, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
  6. 6 Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China
  7. 7 Centre for Translational Stem Cell Biology, Hong Kong, China
  1. Correspondence to Dr Nan Wu, Department of Orthopedic Surgery, Key Laboratory of Big Data for Spinal Deformities, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; dr.wunan{at}pumch.cn; Professor Bo Gao, School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China; bogao{at}cuhk.edu.hk

Abstract

Congenital vertebral malformations (CVMs) and neural tube defects (NTDs) are common birth defects affecting the spine and nervous system, respectively, due to defects in somitogenesis and neurulation. Somitogenesis and neurulation rely on factors secreted from neighbouring tissues and the integrity of the axial structure. Crucial signalling pathways like Wnt, Notch and planar cell polarity regulate somitogenesis and neurulation with significant crosstalk. While previous studies suggest an association between CVMs and NTDs, the exact mechanism underlying this relationship remains unclear. In this review, we explore embryonic development, signalling pathways and clinical phenotypes involved in the association between CVMs and NTDs. Moreover, we provide a summary of syndromes that exhibit occurrences of both CVMs and NTDs. We aim to provide insights into the potential mechanisms underlying the association between CVMs and NTDs, thereby facilitating clinical diagnosis and management of these anomalies.

  • orthopedics
  • nervous system malformations
  • global health

https://doi.org/10.1136/jmg-2023-109501

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    Footnotes

    • Contributors Conceived and designed the study: YY, BG and NW. Wrote and edited the manuscript: YY, JZ (Jianan Zhang), XF and CC. Revised the manuscript: YC, GQ, ZW, JZ (Jianguo Zhang), BG and NW. All authors read and approved the final manuscript.

    • Funding This research was partially funded by the NSFC Incubation Project of Guangdong Provincial People's Hospital (No. KY0120220040 to YY), the Guangdong Basic and Applied Basic Research Foundation (No. 2022A1515111091 to YY, No. 2020A1515110545 to CC, No. 2022A1515012557 to YC), the Guangzhou Basic and Applied Basic Research Foundation (No. SL2022A04J00172 to YY), the National Natural Science Foundation of China (No. 82102636 to CC), the Chinese University of Hong Kong Direct Grant for Research (No. 2022.085 to BG), the Health@InnoHK, Innovation and Technology Commission (CTSCB to BG), the National High Level Hospital Clinical Research Funding (2022-PUMCH-D-004 and 2022-PUMCH-C-033 to NW) and the CAMS Innovation Fund for Medical Sciences (CIFMS, 2021-I2M-1-051 to NW).

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.