Fig. 2.

a Patient 2: Pedigree and TFAP2A genotypes. DNA chromatograms of the proband’s and his mother’s TFAP2A sequences are shown with position of the c.1025+2T>A mutation indicated with red arrows; the proband is designated with a black arrow; phenotypes observed in other members of the pedigree are indicated under corresponding symbols. b Schematic representation of the human TFAP2A gene and mutations. Previously reported mutations (Reiber et al. 2010; Gestri et al. 2009; Tekin et al. 2009) are shown with black arrows; the position of the c.1025+2T>A mutation is shown with a red arrow