Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2016 Jul;53(7):431-7.
doi: 10.1136/jmedgenet-2015-103554. Epub 2016 Apr 15.

The genetic landscape and clinical implications of vertebral anomalies in VACTERL association

Yixin Chen  1 , Zhenlei Liu  1 , Jia Chen  1 , Yuzhi Zuo  1 , Sen Liu  2 , Weisheng Chen  1 , Gang Liu  1 , Guixing Qiu  2 , Philip F Giampietro  3 , Nan Wu  2 , Zhihong Wu  4
Affiliations
Review

The genetic landscape and clinical implications of vertebral anomalies in VACTERL association

Yixin Chen et al. J Med Genet. 2016 Jul.

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.

Keywords: Gene; VACTERL association; Vertebral anomalies.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Radiology of a 2-year-old boy diagnosed with VACTERL association. Preoperative spinal X-ray (A) and CT scan (B) revealed a left hemivertebra between L3 and L4, and a right hemivertebra between L5 and S1 that was fused with S1 vertebra (white arrows). R, right side of the body; VACTERL, vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L).
Figure 2
Figure 2
General view of genetic findings and vertebral manifestations in VACTERL association. Mitochondrial, mitochondrial dysfunction; SNVs, single-nucleotide variants; VACTERL, vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L).
See this image and copyright information in PMC

References

    1. Temtamy SA, Miller JD. Extending the scope of the VATER association: definition of the VATER syndrome. J Pediatr 1974;85:345–9. 10.1016/S0022-3476(74)80113-7 - DOI - PubMed
    1. Solomon BD. VACTERL/VATER Association. Orphanet J Rare Dis 2011;6:56 10.1186/1750-1172-6-56 - DOI - PMC - PubMed
    1. Quan L, Smith DW. The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects. J Pediatr 1973;82:104–7. 10.1016/S0022-3476(73)80024-1 - DOI - PubMed
    1. Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics 1983;71:815–20. - PubMed
    1. Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, Mutchinick OM, Borman B, Cocchi G, Czeizel AE, Goujard J, Irgens LM, Lancaster PA, Martinez-Frias ML, Merlob P, Ruusinen A, Stoll C, Sumiyoshi Y. The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet A 1997;71:8–15. - PubMed

Publication types

Supplementary concepts