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- Title
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the 'Renal' phenotype.
- Authors
Reutter, Heiko; Hilger, Alina; Hildebrandt, Friedhelm; Ludwig, Michael
- 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.
- Subjects
HUMAN abnormality genetics; CONGENITAL heart disease; ABNORMALITIES in the anatomical extremities; KIDNEY abnormalities; SPINE abnormalities; RECTUM abnormalities; TRACHEAL fistula; ESOPHAGEAL atresia; HUMAN abnormalities; BIOLOGICAL models; CHROMOSOME abnormalities; GENES; GENETIC mutation; PHENOTYPES; GENOTYPES; GENETICS
- Publication
Pediatric Nephrology, 2016, Vol 31, Issue 11, p2025
- ISSN
0931-041X
- Publication type
Article
- DOI
10.1007/s00467-016-3335-3