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. 2016 Apr;6(4):a025882. doi: 10.1101/cshperspect.a025882

Figure 1.

Figure 1.

Examples of progeroid patients and selected causal genes for segmental progeroid syndromes. (A) A 35-yr-old Italian Caucasian male, registry #ROMA1010, with a homozygous WRN mutation, c.867_874delAGAAAATC (p.Glu290fs) (Friedrich et al. 2010). He had a characteristic ankle ulcer (with bandage). (B) A 23-yr-old African–American Caucasian female, registry #ATLAN1010 with a heterozygous LMNA mutation, c.398G>T (p.Arg133Leu) (Chen et al. 2003). Atrophic skin of hands is shown. (C) Examples of major causal genes of segmental progeroid syndromes associated with DNA damage repair and response. Mutated loci so far identified among cases of atypical Werner syndrome (WS) within the International Registry of WS are underlined.