Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster.
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.
Masala
Maria Vittoria
MV
Department of Dermatology, University of Sassari, Sassari, Italy. mvmasala@uniss.it
Scapaticci
S
S
Olivieri
Carla
C
Pirodda
Cesare
C
Montesu
Maria Antonietta
MA
Cuccuru
Maria Antonietta
MA
Pruneddu
Sara
S
Danesino
Cesare
C
Cerimele
Decio
D
D000328:Adult; D002898:Chromosomes, Human, Pair 8; D003241:Consanguinity; D005090:Exodeoxyribonucleases; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation; D010375:Pedigree; D053484:RecQ Helicases / Q000235:genetics*; D012867:Skin / Q000473:pathology; D014898:Werner Syndrome / Q000235:genetics* / Q000473:pathology; D000071657:Werner Syndrome Helicase
D005090:Exodeoxyribonucleases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase