Victor A. McKusick, OMIM, Johns Hopkins University, April 18, 2007
[for Professionals mainly]
Gene Map Locus: 8p12 - p11.2
Clinical Synopsis- Short stature - Stocky trunk - Scleroderma - like skin, especially of face and distal extremities - Subcutaneous calcification - Ulceration - [Hair] - Thin, sparse, ... Premature balding ... - Prematurely aged face - Beaked nose ... - Cataracts - Retinal degeneration ... Premature arteriosclerosis ... Diabetes mellitus - Hypogonadism ... - Osteoporosis ... Malignancy in approximately 10 % - Osteosarcoma and meningioma especially ... - Variegated translocation mosaicism in cultured fibroblasts - Poor mitogenic response to growth factors ... Autosomal recessive ...
The features of Werner syndrome are scleroderma - like skin changes, especially in the extremities, cataract, subcutaneous calcification, premature arteriosclerosis, diabetes mellitus, and a wizened and prematurely aged facies ... habitus is characteristic, with short stature, slender limbs, and stocky trunk. The nose is beaked ... Malignancy was frequent in the patients and in the families generally ... osteosarcoma requiring amputation ... cataract surgery was complicated by wound dehiscence and its consequences ... "Variegated translocation mosaicism" is the designation proposed by W. W. Nichols ... a phenomenon he and others have observed in Werner syndrome: skin fibroblast cell lines from such patients are usually composed of one or several clones, each marked by a distinctive, apparently balanced translocation ... B - lymphocytes in 2 brothers ... demonstrated variegated translocation mosaicism as well as the abbreviated life span ... Scappaticci et al. (1990) found multiple numerical and structural chromosomal abnormalities in cultured lymphocytes of 4 patients with Werner syndrome ... Because DNA polymerase beta (174760) maps to the same region, 8p12 - p11, as the Werner syndrome phenotype, Sadakane et al. (1994) focused on this gene as the possible site of mutation causing the disorder ... Yu et al. (1996) identified 4 mutations in patients with Werner syndrome ... Prince et al. (1999) showed that Werner syndrome fibroblast cell lines are unusually sensitive to the DNA - damaging agent 4NQO, although not to gamma radiation ... Wyllie et al. (2000) showed that forced expression of telomerase (187270) in Werner ... Telomerase activity and telomere extension is sufficient to prevent premature senescence of WS fibroblast cultures ...
NCBI Genes and Disease
Werner Syndrome is a premature aging disease that begins in adolescence or early adulthood and results in the appearance of old age by 30 - 40 years of age ... wrinkled skin, baldness, cataracts, muscular atrophy and a tendency to diabetes mellitus, among others ... The gene for Werner disease (WRN) was mapped to chromosome 8 and cloned ...
International Registry Of Werner Syndrome
George M. Martin M.D. and Junko Oshima M.D., Ph.D., Department of Pathology, University of Washington, September 20, 2005
... a rare autosomal recessive disorder of considerable biomedical interest because patients exhibit an accelerated development of several major disorders commonly found in older individuals ...
Syndrome de Werner / Progeria de L'adulte
Univ. de Rennes, France
Donnees Frequentes ... Enfance - Adolescence 11 - 17 ans - Adulte 18 - 50 ans - amyotrophie / muscles atrophie' - histologie peau tissu sous - cutane atrophie ... molles calcifications sous - cutanees ou cutanees - voix aigue- taille definitive petite - atherome precoce - atherosclerose cerebrale ... calcifications arterielles - ongle atrophique - forme oculaire ... - hyperkeratose - diabete insulino - resistant ... alopecie - hypogonadisme ... - senilite precoce ... poliose - sterilite - sarcomes ...
Werner, syndrome de
Le syndrome de Werner est un syndrome de vieillissement précoce ... risques majeurs ... neurologiqes ainsi que les cancers de type mésenchymateux ... transmet de maniére récessive et autosomique ... perte totale de fonction de la protéine est retrouvée sur le géne WRN localisé en 8p12 ...
A fact sheet for specialists ... Inclusions, exclusions ... Diagnostic criteria ... Clinical features ... Associated defects ... Differential diagnosis ... Treatment ... Prognosis ...
Last Updated: 2011/3/28