Progress and perspective of TBX6 gene in congenital vertebral malformations.
Progress and perspective of TBX6 gene in congenital vertebral malformations.
复制标题
TBX6基因在先天性椎体畸形中的研究进展与展望
DOI：
10.18632/oncotarget.10619
复制
发表时间：
2016-08-30
期刊：
影响因子：
--
通讯作者：
Wu Z
中科院分区：
文献类型：
--
作者：
Chen W;Liu J;Yuan D;Zuo Y;Liu Z;Liu S;Zhu Q;Qiu G;Huang S;Giampietro PF;Zhang F;Wu N;Wu Z
先天性脊柱畸形是一系列影响众多人群的重大健康问题。它可能作为一种孤立的疾病或作为与其他畸形和/或临床特征一起发生的潜在综合征的一部分。轴旁中胚层、体节或轴骨发生的破坏可导致脊柱畸形。在体节发生的整个过程中，分裂钟和波前是主导因素，TBX 6基因在其中发挥着重要作用。TBX 6是T-box基因家族的成员，其在脊柱畸形中的重要致病性已被证实。最近发现了几种TBX 6基因变异和新的致病机制，这可能对理解CVM的遗传基础产生重大影响。在这篇综述中，我们描述了TBX 6在人类脊柱发育过程中发挥的作用，包括它与其他关键元素在体节发生过程中的相互作用。然后，我们系统地回顾了TBX 6基因变异和CVM相关表型之间的关联，突出了TBX 6和人类畸形的重要和新兴作用。
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.