Figure 1.

Position of deletions in 17q23.2 and mutations in TBX4. (A) Position of breakpoints in 17q23.2 deletions in three childhood-onset PAH patients compared with eight patients with 17q23.2 deletions reported in the literature. Childhood-onset PAH patient 1: 55.4–57.6 Mb; childhood-onset PAH patient 2: 56.7–58.7 Mb; childhood-onset PAH patient 3:55.6–57.6 Mb; Ballif²⁴: patients 1, 3–7: 55.4–57.6 Mb; Ballif²⁴: patient 2: 54.8–57.6 Mb; Nimmakayalu²⁵: one patient:53.7–57.5 Mb; SRO, smallest region of overlap. (B) The TBX4 protein, represented by a blue bar, with the dark part representing the T-box. The positions of TBX4 mutations in three childhood-onset PAH patients (mutations in boxes) and one adult-onset patient (p.W77R) are depicted on the lower side of the protein bar. The positions of TBX4 mutations in SPS patients from our SPS cohort (mutations in boxes, grey background if reported before in the literature), and from patients reported in the literature (no boxes) are depicted on the upper side of the protein bar.²⁰ The mutation R250W was detected de novo in two unrelated SPS patients.