Congenital vertebral malformation is a series of significant health problems affecting a large number of populations. It may present as an isolated condition or as a part of an underlying syndromes occurring with other malformations and/or clinical features. Disruption of the genesis of paraxial mesoderm, somites or axial bones can result in spinal deformity. In the course of somitogenesis, the segmentation clock and the wavefront are the leading factors during the entire process in which TBX6 gene plays an important role. TBX6 is a member of the T-box gene family, and its important pathogenicity in spinal deformity has been confirmed. Several TBX6 gene variants and novel pathogenic mechanisms have been recently revealed, and will likely have significant impact in understanding the genetic basis for CVM. In this review, we describe the role which TBX6 plays during human spine development including its interaction with other key elements during the process of somitogenesis. We then systematically review the association between TBX6 gene variants and CVM associated phenotypes, highlighting an important and emerging role for TBX6 and human malformations.
[1]Beijing Union Med Coll Hosp, Peking Union Med Coll, Dept Orthopaed Surg, Beijing, Peoples R China.
[2]Chinese Acad Med Sci, Beijing, Peoples R China.
[3]Peking Union Med Coll, Beijing, Peoples R China.
[4]Beijing Key Lab Genet Res Skeletal Deform, Beijing, Peoples R China.
[5]Chinese Acad Med Sci, Breast Surg Oncol, Canc Hosp, Beijing, Peoples R China.
[6]Nanjing Med Univ, Dept Orthopaed, Huaian Peoples Hosp 1, Huaian, Jiangsu, Peoples R China.
[7]Sichuan Univ, West China Hosp, Dept Orthopaed Surg, Chengdu, Peoples R China.
[8]Univ Wisconsin, Dept Pediat, Sch Med & Publ Hlth, Madison, WI USA.
[9]Fudan Univ, Sch Life Sci, State Key Lab Genet Engn, Shanghai, Peoples R China.
[10]Chinese Acad Med Sci, Med Res Ctr Orthopaed, Beijing, Peoples R China.
[11]Beijing Union Med Coll Hosp, Dept Cent Lab, Peking Union Med Coll, Beijing, Peoples R China.
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