Figure 1

Alterations of PTEN gene in PHTS patients. a) Real Time PCR quantification analysis of PTEN mRNA. Real Time RT-PCR quantification analysis was performed for the PTEN messenger. H_1-20: mean value between all healthy samples used as calibrator to measure the relative expression; H₁, H₂, ... H₂₀: healty subject supposedly not deleted for the target genes. The graph shows quantification of the PTEN mRNA of the PHTS patients and twenty healty subjects. b) Copy number quantification of PTEN gene and PTENP1 pseudogene. Real Time PCR quantification analysis was performed for PTEN and PTENP1 genomic sequences. IVS9: amplified fragment inside intron 9 of the PTEN gene; IVS5: amplified fragment at the boundaries of exon 5 and IVS5 of the PTEN gene; PHTS1, PHTS2 and PHTS3: patients affected by PHTS syndrome, as reported in Table 1. H1, H2 and H3: three healthy subjects supposedly not deleted for the target genes.