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. 2012 Jul;28(7):681-5.
doi: 10.1007/s00383-012-3100-z. Epub 2012 May 12.

Inheritance of the VATER/VACTERL association

Enrika Bartels  1 , Ekkehart Jenetzky, Benjamin D Solomon, Michael Ludwig, Eberhard Schmiedeke, Sabine Grasshoff-Derr, Dominik Schmidt, Stefanie Märzheuser, Stuart Hosie, Sandra Weih, Stefan Holland-Cunz, Markus Palta, Johannes Leonhardt, Mattias Schäfer, Christina Kujath, Anke Rissmann, Markus M Nöthen, Heiko Reutter, Nadine Zwink
Affiliations

Inheritance of the VATER/VACTERL association

Enrika Bartels et al. Pediatr Surg Int. 2012 Jul.

Abstract

VATER/VACTERL association refers to the non-random co-occurrence of the following component features: vertebral defects, anal atresia, cardiac malformations, tracheoesophageal atresia, renal abnormalities, and limb defects. Recently, Solomon et al. (Hum Genet 127:731-733, 2010) observed an increased prevalence of component features among first-degree relatives of VATER/VACTERL patients suggesting that in some patients, the disorder may be inherited. To replicate these findings, we investigated 87 VATER/VACTERL patients with the presence of a minimum of three component features and their first-degree relatives (n = 271). No increase in the overall prevalence of component features was observed in first-degree relatives compared to the general population (χ² = 2.68, p = 0.10). Separate analysis for the prevalence of single component features showed a higher prevalence of tracheoesophageal fistula/atresia among first-degree relatives compared to the general population (OR 17.65, 95% CI 2.47-126.05). However, this was based on occurrence in one family only. Our findings suggest that although familial occurrence renders a genetic contribution likely, the overall risk of recurrence among the first-degree relatives of patients with VATER/VACTERL association is probably very low. Since the patients in the present study were young and no offspring could be studied, estimation of the role of de novo mutations in the development of VATER/VACTERL was not possible.

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Conflict of interest statement

Conflict of interest The authors have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
Pedigrees of Family 1 and Family 2. Predigrees indicating major component features in the index patient (marked with an arrow) with VATER/VACTERL association and the first-degree relatives
Fig. 2
Fig. 2
Pedigrees of Family 3 and Family 4. Pedigrees indicating major component features in the index patient (marked with an arrow) with VATER/VACTERL association and the affected second-degree relatives
See this image and copyright information in PMC

References

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Publication types

Supplementary concepts