Figure 2. Identification of the large genomic deletion spanning PITX2 in the family. A: Confirming and mapping the deleted region around PITX2 with quantitative PCR (qPCR). The deletion was positioned between 26.4 kb upstream and 4.5 kb downstream of the PITX2 gene. B: The DNA fragment containing the breakpoint was amplified with long-range PCR using the −26.4k-F/+4.5k-R primers. C: The sequencing result of the DNA fragment above shows an approximate 50 kb deletion spanning the first exon of PANCR and the entire PITX2 gene.