PMC9334726_01
Patient's characteristics: (A) face, (B) ventral trunk, (C) back of the trunk, (D) hands, (E) feet, (F) sole, and clinical history diagram (G).
fendo-13-918979-g001.jpg
PMC9334726_01_fendo-13-918979-g001.jpg
f1
His hair, eyebrows, and beard were sparse ( Figure 1A ). The limbs were slender and out of proportion to the trunk, and with reduced subcutaneous fat ( Figures 1B, C ). The skin of the face, hands, and feet was waxy, thin, and with low elasticity ( Figures 1D, E ). There were 0.8 cm x 0.8 cm wounds with purulent secretion on the dorsal side of the left toe and 0.5 cm x 0.5 cm wounds at the lateral metatarsal joint of the left foot ( Figures 1E, F ). There was no deformity of the chest and spine. Clinical history ( Figure 1G ) was as follows: the height of the patient increased more slowly than their peers since childhood and delayed puberty.
(A) Family map and (B) Sanger sequencing results.
fendo-13-918979-g002.jpg
PMC9334726_01_fendo-13-918979-g002.jpg
f2
Figure 2A  , II-5) using peripheral blood demonstrated that there are heterozygous variants of the WRN gene (NM_000553) c.3384-1G>C (GRCh37, Chr8:31004568) and c.3744dupA p.Ala1248fs ( Figure 2B ). Family Sanger sequencing showed that the mother and younger sister ( Figures 2A  , I-2, II-4) had the same c.3384-1G>C variant.