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Síndrome de Werner atípico: síndrome progeroide atípico

2010; Elsevier BV; Volume: 73; Issue: 2 Linguagem: Inglês

10.1016/j.anpedi.2010.02.012

1695-9531

Alexander Barrios Sanjuanelo, Carla Otero,

Telomeres, Telomerase, and Senescence

Progeria is a premature ageing syndrome. Werner Syndrome (WS) is a type of progeria in the adult which includes bilateral juvenile cataracts and cutaneous sclerodermiform changes; it is caused by a mutation if the WRN gene which codes a helicase, a DNA repair enzyme. A case is presented of a patient, a 12 year old girl, with characteristics of WS but with no identifiable mutation in the WRN gene, therefore it was classified as atypical Werner Syndrome (AWS).