Figure 1.

A novel TBX1 mutation causally linked to congenital contruncal defects. (A) Sequence electropherograms indicated the TBX1 mutation compared with its wild-type form. Arrow indicated the heterozygous nucleotides of C/A in the mutation carrier (mutant) or the homozygous nucleotides of C/C in the corresponding control individual (wild-type). The rectangle marks the nucleotides comprising a codon of TBX1. (B) Schematic presentation of TBX1 protein structures with the identified mutation indicated in the T-box domain. The mutation identified in a patient with transposition of the great arteries and ventricular septal defect was indicated above the structural domains. NH2, amino-terminus; NLS, nuclear location signal; TAD, transcriptional activation domain; COOH, carboxyl-terminus.