Figure 2

Molecular characterization of the proband. (A) The sequence analysis of the TGFB2 gene disclosed the novel c.839-1G>A transition (arrow), affecting the splice acceptor site of exon 6. (B) Characterization of the splicing effect of the c.839-1G>A mutation: agarose gel electrophoresis of the cDNA, amplified with primers encompassing exons 5–7, showed in the patient (P) the presence of an aberrant band (192 bp), in addition to the wild type fragment (307 bp), which was also detected in the control (C). The sequencing of the aberrant PCR product showed the deletion of the beginning 115 bp of exon 6 (r.839_953del), demonstrating that c.839-1G>A mutation leads to the activation of a new cryptic splice acceptor site between cDNA nucleotides 953 and 954.