ACTG1 and Werner syndrome: The combination of methodologies used in this work (Figure 1A,B) was able to detect candidates to causative variants in 20 patients (13 were classified as pathogenic, five likely pathogenic, and two variants of unknown significance): 19 within the known genes of WS, and one patient was reclassified with BWS2 due to a de novo variant in ACTG1, resulting in a final detection rate of 77% (20/26) (Table 1).