title: Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.
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.
authors: Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany. reutter@uni-bonn.de.|Department of Neonatology and Pediatric Intensive Care, Children's Hospital-University of Bonn, Bonn, Germany. reutter@uni-bonn.de.
authors: Heiko
authors: H
authors: Reutter
authors: Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.
authors: Alina C
authors: AC
authors: Hilger
authors: Department of Medicine, Boston Children's Hospital-Harvard Medical School, Boston, MA, USA.
authors: Friedhelm
authors: F
authors: Hildebrandt
authors: Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.
authors: Michael
authors: M
authors: Ludwig
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics*; D001003:Anal Canal / Q000002:abnormalities*; D001006:Anus, Imperforate / Q000453:epidemiology / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics; D004947:Esophagus / Q000002:abnormalities*; D051524:Fibroblast Growth Factor 8 / Q000235:genetics; D051858:Forkhead Transcription Factors / Q000235:genetics; D005838:Genotype; D018841:HSP90 Heat-Shock Proteins / Q000235:genetics; D006330:Heart Defects, Congenital / Q000453:epidemiology / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D060588:LIM Domain Proteins / Q000235:genetics; D017880:Limb Deformities, Congenital / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D015995:Prevalence; D011884:Radius / Q000002:abnormalities*; D035583:Rare Diseases / Q000453:epidemiology / Q000235:genetics*; D013131:Spine / Q000002:abnormalities*; D014132:Trachea / Q000002:abnormalities*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D003598:Cytoskeletal Proteins; C496456:FGF8 protein, human; C098521:FOXF1 protein, human; D051858:Forkhead Transcription Factors; C513184:HOXD13 protein, human; D018841:HSP90 Heat-Shock Proteins; D018398:Homeodomain Proteins; D060588:LIM Domain Proteins; C103594:LPP protein, human; C092306:TRAP1 protein, human; D014157:Transcription Factors; C491595:ZIC3 protein, human; D051524:Fibroblast Growth Factor 8
keywords: Association; Genetics; Renal; VACTERL; VATER