Progress and perspective of TBX6 gene in congenital vertebral malformations
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Weisheng Chen1,2,*, Jiaqi Liu3,4,*,**, Dongtang Yuan5,*,**, Yuzhi Zuo1, Zhenlei Liu1, Sen Liu1,3, Qiankun Zhu1, Guixing Qiu1,3, Shishu Huang6, Philip F. Giampietro7, Feng Zhang8, Nan Wu1,3,9,* and Zhihong Wu2,3,10,*
1 Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
2 Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
3 Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China
4 Breast Surgical Oncology, Cancer Hospital of Chinese Academy of Medical Sciences, Beijing, China
5 Department of Orthopaedics, Huai’an First People’s Hospital, Nanjing Medical University, Huai’an, Jiangsu, China
6 Department of Orthopaedic Surgery, West China Hospital, Sichuan University, Chengdu, China
7 Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA
8 State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China
9 Medical Research Center of Orthopaedics, Chinese Academy of Medical Sciences, Beijing, China
10 Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
** As a co-first author
* These authors have contributed equally to this study
Zhihong Wu, email:
Nan Wu, email:
Keywords: congenital vertebral malformation, TBX6, congenital scoliosis, somitogenesis, vertebrate segmentation
Received: February 15, 2016 Accepted: May 16, 2016 Published: July 15, 2016
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.
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