Review of the Literature

Doff B. McElhinney et al., 18 2003 states that Twelve distinct mutations in the NKX2-5 coding region were identified in 18 of 608 patients (3%), including 9 of 201 (4%) with tetralogy of Fallot, 3 of 71 (4%) with a secundum ASD, one each with truncus arteriosus, double-outlet right ventricle, Ltransposition of the great arteries, interrupted aortic arch, hypoplastic left heart syndrome, and aortic coarctation, but in no patients with D-transposition of the great arteries (n _ 86) or valvar aortic stenosis (n_ 21). Eleven of the mutations were amino acid-altering missense nucleotide substitutions or deletions, and one was predicted to cause premature termination of translation.