Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.
Pediatr Nephrol
; 31(11): 2025-33, 2016 11.
Article
em En
| MEDLINE
| ID: mdl-26857713
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Canal Anal
/
Anus Imperfurado
/
Rádio (Anatomia)
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Coluna Vertebral
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Traqueia
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Anormalidades Múltiplas
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Deformidades Congênitas dos Membros
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Doenças Raras
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Esôfago
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Cardiopatias Congênitas
Tipo de estudo:
Prevalence_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article