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Congenital malformation syndromes
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association
  1. Yixin Chen1,
  2. Zhenlei Liu1,
  3. Jia Chen1,
  4. Yuzhi Zuo1,
  5. Sen Liu1,2,
  6. Weisheng Chen1,
  7. Gang Liu1,
  8. Guixing Qiu1,2,
  9. Philip F Giampietro3,
  10. Nan Wu1,2,
  11. Zhihong Wu2,4
  1. 1Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
  2. 2Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China
  3. 3Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA
  4. 4Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
  1. Correspondence to Dr Nan Wu, Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, China; dr.wunan{at}pumch.cn
  2. Dr Zhihong Wu, Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union College and Chinese Academic of Medical Sciences, No 1 Shuaifuyuan, Beijing 100730, China; Beijing Key Laboratory for Genetic Reserach of Skeletal Deformity, China; wuzh3000{at}126.com

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.

  • VACTERL association
  • Vertebral anomalies
  • Gene

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

https://doi.org/10.1136/jmedgenet-2015-103554

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