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 Printable version |
Epidemiology and clinical aspects of Werner’s syndrome in North Sardinia: description of a cluster |
European Journal of Dermatology. Volume 17, Number 3, 213-6, May-June 2007, Genes and skin
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 Free Article
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Author(s) : Maria Vittoria Masala, Carla Olivieri, Cesare Pirodda, Maria Antonietta Montesu, Maria Antonietta Cuccuru, Sara Pruneddu, Cesare Danesino, Decio Cerimele |
Summary : Werner syndrome (WS, MIM#277700) is a very rare autosomal recessive disorder. WS clinical signs include altered distribution of subcutaneous fat, juvenile bilateral cataracts, a mask-like face and bird-like nose, trophic ulcers of the feet, diabetes mellitus, and premature atherosclerosis. The habitus is characteristic, with short stature, stocky trunk and slender extremities. WS frequency has been roughly estimated to be 1: 100,000 in Japan and 1: 1,000,000-1: 10,000,000 outside of Japan. The only exception to the latter data can be seen in the clustering of WS in Sardinia. Since 2001, 5 new cases have been observed: 4 members of the same family and 1 sporadic case. Therefore, since 1982 the total number of cases described in North Sardinia amounts to 18: 15 are familial (11 members of the same family group) and 3 sporadic. A short clinical description of the 5 new cases is reported. |
Keywords : Werner’s syndrome, Werner gene, Werner protein, Rec Q DNA helicase |
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