title: Progress and perspective of TBX6 gene in congenital vertebral malformations.
abstract: 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.
authors.affiliation: Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.|Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: Weisheng
authors.initials: W
authors.lastname: Chen
authors.affiliation: Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.|Breast Surgical Oncology, Cancer Hospital of Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Jiaqi
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Orthopaedics, Huai'an First People's Hospital, Nanjing Medical University, Huai'an, Jiangsu, China.
authors.forename: Dongtang
authors.initials: D
authors.lastname: Yuan
authors.affiliation: Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Yuzhi
authors.initials: Y
authors.lastname: Zuo
authors.affiliation: Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Zhenlei
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.|Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
authors.forename: Sen
authors.initials: S
authors.lastname: Liu
authors.affiliation: Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Qiankun
authors.initials: Q
authors.lastname: Zhu
authors.affiliation: Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.|Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
authors.forename: Guixing
authors.initials: G
authors.lastname: Qiu
authors.affiliation: Department of Orthopaedic Surgery, West China Hospital, Sichuan University, Chengdu, China.
authors.forename: Shishu
authors.initials: S
authors.lastname: Huang
authors.affiliation: Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
authors.forename: Philip F
authors.initials: PF
authors.lastname: Giampietro
authors.affiliation: State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Zhang
authors.affiliation: Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.|Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.|Medical Research Center of Orthopaedics, Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Nan
authors.initials: N
authors.lastname: Wu
authors.affiliation: Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.|Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.|Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Zhihong
authors.initials: Z
authors.lastname: Wu
mesh_terms: D000483:Alleles; D000818:Animals; D000013:Congenital Abnormalities / Q000235:genetics*; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D008648:Mesoderm / Q000378:metabolism; D051379:Mice; D009154:Mutation; D010641:Phenotype; D012600:Scoliosis / Q000151:congenital / Q000235:genetics*; D017422:Sequence Analysis, DNA; D015398:Signal Transduction; D019170:Somites / Q000378:metabolism; D013131:Spine / Q000002:abnormalities*; D020825:T-Box Domain Proteins / Q000235:genetics* / Q000378:metabolism; D014714:Vertebrates; D015027:Zebrafish
chemical_list: D020825:T-Box Domain Proteins; C491182:TBX6 protein, human
keywords: TBX6; congenital scoliosis; congenital vertebral malformation; somitogenesis; vertebrate segmentation