Figure.

The patient’s (A) family tree, (B) characteristic “bird-like face” and senile appearance, (C, arrows) cutaneous hyperkeratosis in bilateral elbows, (D, arrows) knees and (E, arrows) ankles. (F and G, arrows) X-ray showing the segmented calcification of the Achilles tendons at the diagnosis and five years later. The patient’s (H and I, arrows) direct DNA sequence of the WRN gene revealed a c.1720+1G>A substitution in intron 14 and c.3139-1G>C substitution in intron 25 (2), which was (J) confirmed by PCR-RFLP and (K) AS-PCR for the patient and his mother. RT-PCR spanning (L) exons 13 to 15, (M) exons 25 to 27, (N) exons 13 to 26 and exons 14 to 27, confirming that (O) skips in exons 14 and 26 take place in different alleles.