Progress and perspective of TBX6 gene in congenital vertebral malformations.
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.
['Chen|Weisheng|W|', 'Liu|Jiaqi|J|', 'Yuan|Dongtang|D|', 'Zuo|Yuzhi|Y|', 'Liu|Zhenlei|Z|', 'Liu|Sen|S|', 'Zhu|Qiankun|Q|', 'Qiu|Guixing|G|', 'Huang|Shishu|S|', 'Giampietro|Philip F|PF|', 'Zhang|Feng|F|', 'Wu|Nan|N|', 'Wu|Zhihong|Z|']
D000483:Alleles D000818:Animals D000013:Congenital Abnormalities D014644:Genetic Variation D006579:Heterozygote D006801:Humans D008648:Mesoderm D051379:Mice D009154:Mutation D010641:Phenotype D012600:Scoliosis D017422:Sequence Analysis, DNA D015398:Signal Transduction D019170:Somites D013131:Spine D020825:T-Box Domain Proteins D014714:Vertebrates D015027:Zebrafish
TBX6 congenital vertebral malformation somitogenesis congenital scoliosis vertebrate segmentation