Although he lacked short stature, this individual had three cardinal signs of WS (cataracts, dermatological pathology and premature greying) as well as additional clinical features, including type 2 diabetes mellitus and atherosclerosis; thus, this individual met criteria for possible diagnosis of WS diagnosis.3 Genome sequencing revealed a novel heterozygous WRN variant, c.2367_2368delAT, in exon 20, which results in the truncation of the WRN protein, p.Ser790fs (table 1). The gene discussed is WRN; the disease is cataract.