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Updated: Jul 16, 2026

Genetic Studies of Human DNA Repair Proteins Using Yeast as a Model System
Published on: March 18, 2010
[Werner's syndrome (adult onset progeria)]
N Kluger1, D Bessis, N Uhrhammer
1Université Montpellier I, Service de Dermatologie, Hôpital Saint Eloi, CHU Montpellier, 80, avenue Augustin Fliche, 34295 Montpellier Cedex 5. nicolaskluger@yahoo.fr
Abstract:
Werner's syndrome (adult onset progeria) is a rare form of autosomal recessive genodermatosis associated in almost 80% of cases with mutation of the WRN gene. This prototype of rapid ageing syndromes is characterized by short stature with skin and hair anomalies (early graying of the hair, alopecia, depilation, sclerosed skin), orthopedic complications (flat foot, hallux valgus and other joint deformations) as well as systemic signs (early cataract, premature and diffuse atherosclerosis, endocrinopathies) and high risk of certain types of cancer (sarcomas, myeloid blood dyscrasias). Death occurs around the age of 40 - 50 years mainly as a result of cardiovascular accident or development of a malignant tumour. Signs of early aging should evoke this basic diagnosis and arrangements should be made for appropriate follow-up with screening for and treatment of systemic complications.
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