Werner syndrome

Not to be confused with Wermer syndrome.
Werner syndrome (progeria)
Werner syndrome has an autosomal recessive pattern of inheritance.
SpecialtyEndocrinology Edit this on Wikidata

Werner syndrome (WS) or Werner's syndrome, also known as "adult progeria",[1] is a rare, autosomal recessive disorder[2] which is characterized by the appearance of premature aging.[3]

Werner syndrome is named after the German scientist Otto Werner.[4] He identified the syndrome in four siblings observed with premature aging, which he explored as the subject of his dissertation of 1904.[5]

It has a global incidence rate of less than 1 in 100,000 live births[6] (although incidence in Japan and Sardinia is higher, affecting 1 in 20,000–40,000 and 1 in 50,000, respectively).[7][8] 1,300 cases had been reported as of 2006.[9] Affected individuals typically grow and develop normally until puberty; the mean age of diagnosis is twenty-four, often realized when the adolescent growth spurt is not observed.[10] The youngest person diagnosed was six years old.[11] The median and mean ages of death are 47–48 and 54 years, respectively.[12] The main causes of death are cardiovascular disease and cancer.[9][10]

  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  2. ^ Norbnop, Phatchara (August 2014). "ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers". Journal of Human Genetics. 59 (8): 467–470. doi:10.1038/jhg.2014.50. PMID 24965254. S2CID 21552381.
  3. ^ Gray MD, Shen JC, Kamath-Loeb AS, Blank A, Sopher BL, Martin GM, Oshima J, Loeb LA (1997). "The Werner syndrome protein is a DNA helicase". Nat. Genet. 17 (1): 100–3. doi:10.1038/ng0997-100. PMID 9288107. S2CID 20587915.
  4. ^ synd/892 at Who Named It?
  5. ^ Werner, Otto (1985). "On Cataract in Conjunction with Scleroderma". Werner's Syndrome and Human Aging. Advances in Experimental Medicine and Biology. Vol. 190. pp. 1–14. doi:10.1007/978-1-4684-7853-2_1. ISBN 978-1-4684-7855-6. PMID 3909762.
  6. ^ Hasty P, Campisi J, Hoeijmakers J, van Steeg H, Vijg J (2003). "Aging and genome maintenance: lessons from the mouse?". Science. 299 (5611): 1355–9. doi:10.1126/science.1079161. PMID 12610296. S2CID 840477.
  7. ^ "Werner syndrome". Genetics Home Reference. Retrieved 18 March 2013.
  8. ^ Masala MV, Scapaticci S, Olivieri C, Pirodda C, Montesu MA, Cuccuru MA, Pruneddu S, Danesino C, Cerimele D (2007). "Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster". Eur J Dermatol. 17 (3): 213–6. doi:10.1684/ejd.2007.0155 (inactive 1 November 2024). PMID 17478382.{{cite journal}}: CS1 maint: DOI inactive as of November 2024 (link)
  9. ^ a b Navarro CL, Cau P, Lévy N (2006). "Molecular bases of progeroid syndromes". Hum. Mol. Genet. 15 Spec No 2: R151–61. doi:10.1093/hmg/ddl214. PMID 16987878.
  10. ^ a b Epstein CJ, Martin GM, Schultz AL, Motulsky AG (1966). "Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process". Medicine (Baltimore). 45 (3): 177–221. doi:10.1097/00005792-196605000-00001. PMID 5327241.
  11. ^ Oshima J, Martin GM, Hisama FM (February 2012) [1993–]. "Werner Syndrome". In Pagon RA, Bird TD, Dolan CR, et al. (eds.). GeneReviews. Seattle WA: University of Washington, Seattle. PMID 20301687. NBK1514.
  12. ^ Oshima J, Martin GM, Hisama FM. Werner Syndrome. 2002 Dec 2 [Updated 2012 Dec 13]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from:https://www.ncbi.nlm.nih.gov/books/NBK1514/