Table 1 Genetic findings in fetuses with VACTERL association
From: Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
ID | Phenotype | Gene | Variant | Inheritance | Interpretation |
|---|---|---|---|---|---|
CONGE-79 | (20 weeks) persistence of the left superior vena cava, left heart hypoplasia, right lung with two lobes, type A esophageal atresia | CHD7 | c.5428C>T: p.R1810X | Heterozygous, de novo | Pathogenic variant |
051-141-VWD | (20 weeks) tetralogy of Fallot, esophageal atresia | DSTYK | c.2125C>T: p.R709X | Heterozygous, de novo | Pathogenic variant |
