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Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype

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Abstract

The acronym VATER/VACTERL association (OMIM #192350) refers to the rare non-random co-occurrence of the following component features (CFs): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). According to epidemiological studies, the majority of patients with VATER/VACTERL association present with a “Renal” phenotype comprising a large spectrum of congenital renal anomalies. This finding is supported by evidence linking all of the human disease genes for the VATER/VACTERL association identified to date, namely, FGF8, FOXF1, HOXD13, LPP, TRAP1, and ZIC3, with renal malformations. Here we review these genotype–phenotype correlations and suggest that the elucidation of the genetic causes of the VATER/VACTERL association will ultimately provide insights into the genetic causes of the complete spectrum of congenital renal anomalies per se.

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Authors and Affiliations

  1. Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany

    Heiko Reutter & Alina C. Hilger

  2. Department of Neonatology and Pediatric Intensive Care, Children’s Hospital–University of Bonn, Bonn, Germany

    Heiko Reutter

  3. Department of Medicine, Boston Children’s Hospital–Harvard Medical School, Boston, MA, USA

    Friedhelm Hildebrandt

  4. Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany

    Michael Ludwig

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Reutter, H., Hilger, A.C., Hildebrandt, F. et al. Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype. Pediatr Nephrol 31, 2025–2033 (2016). https://doi.org/10.1007/s00467-016-3335-3

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