title: The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.
abstract: VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L). Vertebral anomaly is one of the most important and common defects that has been reported in approximately 60-95% of all VACTERL patients. Recent breakthroughs have suggested that genetic factors play an important role in VACTERL association, especially in those with vertebral phenotypes. In this review, we summarised the genetic studies of the VACTERL association, especially focusing on the genetic aetiology of patients with vertebral anomalies. Furthermore, genetic reports of other syndromes with vertebral phenotypes overlapping with VACTERL association are also included. We aim to provide a further understanding of the genetic aetiology and a better evidence for genetic diagnosis of the association and vertebral anomalies.
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Yixin
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Orthopedic 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 Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Jia
authors.initials: J
authors.lastname: Chen
authors.affiliation: Department of Orthopedic 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 Orthopedic 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 Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Weisheng
authors.initials: W
authors.lastname: Chen
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Gang
authors.initials: G
authors.lastname: Liu
authors.affiliation: Department of Orthopedic 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 Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
authors.forename: Philip F
authors.initials: PF
authors.lastname: Giampietro
authors.affiliation: Department of Orthopedic 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: Nan
authors.initials: N
authors.lastname: Wu
authors.affiliation: 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: D001003:Anal Canal / Q000002:abnormalities*; D000818:Animals; D004947:Esophagus / Q000002:abnormalities*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital / Q000235:genetics*; D009421:Nervous System Malformations / Q000235:genetics*; D010641:Phenotype; D013131:Spine / Q000002:abnormalities*; D014132:Trachea / Q000002:abnormalities*
keywords: Gene; VACTERL association; Vertebral anomalies