VACTERL association is a gastrulation defect that was named using an acronym: Vertebral defects, Anal atresia, Tracheo-Esophageal (TE) fistula with esophageal atresia, and Radial and Renal dysplasia and Limb anomolies. Since these early descriptions, the definition of VACTERL association in the medical literature has been problematic for a number of reasons. Here we propose a detailed clinical evaluation of patients with this birth defect at the NIH Clinical Center to better define the phenotype of this association. To identify the underlying genetic etiologies, we propose multiple genetic tests including candiate gene testing and and genomic (eg, whole exome) sequencing in selected patients. Identification of genes involved in the etiology of VACTERL association will increase our understanding of normal and abnormal development during early embryogenesis specifically of gastrulation in humans.
|Saisawat, Pawaree; Kohl, Stefan; Hilger, Alina C et al. (2014) Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. Kidney Int 85:1310-7|
|Solomon, Benjamin D; Baker, Linda A; Bear, Kelly A et al. (2014) An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) as J Pediatr 164:451-7.e1|
|Solomon, B D; Pineda-Alvarez, D E; Hadley, D W et al. (2013) Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association. Mol Syndromol 4:27-31|
|Siebel, S; Solomon, B D (2013) Mitochondrial Factors and VACTERL Association-Related Congenital Malformations. Mol Syndromol 4:63-73|
|Solomon, Benjamin D (2011) VACTERL/VATER Association. Orphanet J Rare Dis 6:56|
|Solomon, Benjamin D; Pineda-Alvarez, Daniel E; Raam, Manu S et al. (2010) Evidence for inheritance in patients with VACTERL association. Hum Genet 127:731-3|