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GIORNALE ITALIANO DI DERMATOLOGIA E VENEREOLOGIA
A Journal on Dermatology and Sexually Transmitted Diseases
Official Journal of the Italian Society of Dermatology and Sexually Transmitted Diseases
Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 1,014
Giornale Italiano di Dermatologia e Venereologia 2004 February;139(1):67-74
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
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.