This Article Abstract Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by McElhinney, D. B. Articles by Goldmuntz, E. Search for Related Content PubMed PubMed Citation Articles by McElhinney, D. B. Articles by Goldmuntz, E.

NKX2.5 mutations in patients with congenital heart disease

Doff B. McElhinney, MD^*, Elizabeth Geiger, MS^*, Joshua Blinder, BS^*, D. Woodrow Benson, MD, PhD and Elizabeth Goldmuntz, MD, FACC^*,*

^* The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Children's Hospital Medical Center, Cincinnati, Ohio, USA

View larger version (24K): [in a new window]   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.