Table 3 CITED2 gene mutations detected in pediatric patients with CHD
From: CITED2 Mutation and methylation in children with congenital heart disease
Nucleotide | Amino acid | Number | Phenotype |
|---|---|---|---|
c.550G > A | p.Gly184Ser | 1 | Mirror dextrocardia, right aortic arch, tetralogy of Fallot |
c.574A > G | p.Ser192Gly | 1 | Aortic stenosis |
c.573-578del6 | p.Ser192fs | 2 | Aortic stenosis and pulmonary valve stenosis; ventricular septal defect and atrial septal defect |