Exploring the association between congenital vertebral malformations and neural tube defects

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...

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Published inJournal of medical genetics Vol. 60; no. 12; pp. 1146 - 1152
Main Authors Ye, Yongyu, Zhang, Jianan, Feng, Xin, Chen, Chong, Chang, Yunbing, Qiu, Guixing, Wu, Zhihong, Zhang, Terry Jianguo, Gao, Bo, Wu, Nan
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group Ltd 01.12.2023
BMJ Publishing Group LTD
Subjects
Birth defects
Bone surgery
Congenital defects
Embryogenesis
Embryonic Development
Female
global health
Humans
Nervous system
nervous system malformations
Neural tube defects
Neural Tube Defects - epidemiology
Neural Tube Defects - genetics
Neurulation - genetics
orthopedics
Phenotypes
Pregnancy
Review
Scoliosis
Signal transduction
Signal Transduction - genetics
Somitogenesis
Spina bifida
Spine
Spine - metabolism
Vertebrae
Wnt protein
global health
orthopedics
nervous system malformations
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Summary: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.
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ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg-2023-109501