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Figure 1 Diagram of the NKX2.5 gene, depicting the locations of new and previously reported mutations. Mutations identified in this report are noted above the diagram of the gene, with the number of patients having the mutation noted. The arrows below the diagram indicate previously reported mutations (1–3). Coding regions are indicated as hatched or white boxes, with the conserved TN domain (TN), homeodomain (HD), and NK2 domain (NK) indicated by labeled white boxes. The 5' and 3' untranslated regions are depicted as smaller boxes, and the single intron as a broken line. The small hearts indicate previously reported NKX2.5 mutations in which one or more affected individuals had structural cardiac anomalies other than a secundum ASD. ASD = atrial septal defect; AVB = atrioventricular block; COA = coarctation of the aorta; DORV = double-outlet right ventricle; HLHS = hypoplastic left heart syndrome; IAA = interrupted aortic arch; L-TGA = L-transposition of the great arteries; TA = truncus arteriosus; TOF = tetralogy of Fallot.
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