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Giornale Italiano di Dermatologia e Venereologia 2004 February;139(1):67-74

Copyright © 2004 EDIZIONI MINERVA MEDICA

language: English, Italian

Werner’s syndrome in Northern Sardinia. Epidemio-logy and clinical update

Piras D., Masala M. V., Cerimele D.

Department of Dermatology University of Sassari, Sassari, Italy


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Werner’s syndrome is an inherited disease with an autosomal recessive trasmission. It’s a progeroid syndrome in which the patient appears older than his natural age. The syndrome is characterized by cutaneous changes, cataract and connective, endocrine-metabolic, immunity and nervous system involvement. In 1996, on the short arm of chromosome 8 (8p12) the gene WRN was cloned. It encodes a RecQ Dna/Rna helicase. The mutation of this enzyme causes the syndrome. In Werner’s syndrome 19 different mutations of the gene WRN are known. In 1997 a total of 1 250 cases have been reported worldwide; the 80% of the patients are Japanese and 70% of them were born by consanguineous marriages. In Northern Sardinia, 15 cases of Werner’s Syndrome have been observed; the syndrome has a high minimal prevalence (1/59000) because of geographical and sociocultural reasons.

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