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Pediatric Nephrology

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08.02.2016 | Review

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

verfasst von: Heiko Reutter, Alina C. Hilger, Friedhelm Hildebrandt, Michael Ludwig

Erschienen in: Pediatric Nephrology | Ausgabe 11/2016

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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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Titel: Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype
verfasst von: Heiko Reutter
Alina C. Hilger
Friedhelm Hildebrandt
Michael Ludwig
Publikationsdatum: 08.02.2016
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 11/2016
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-016-3335-3

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