title: Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey.
abstract: OBJECTIVE
  Werner syndrome (WS) is an autosomal recessive disorder of progeroid symptoms and signs. It is caused by mutations in the WRN gene, which encodes a RecQ DNA helicase. The aim of this study was to revise the diagnostic criteria for Japanese Werner syndrome.
  
  
  METHODS
  A nationwide epidemiological study was carried out from 2009 to 2011, involving 6921 surveys sent to hospitals with more than 200 beds to assess existing WS diagnostic criteria, as well as additional signs of high incidence on the basis of clinical experience with WS.
  
  
  RESULTS
  The existing diagnostic criteria were reviewed, and signs with >90% incidence were listed as cardinal signs. Several criteria were added, including genetic testing and calcification of the Achilles tendon, whereas criteria that are practically difficult to obtain, such as measurement of urinary hyaluronic acid, were omitted.
  
  
  CONCLUSIONS
  The 26-year-old diagnostic criteria for WS were revised on the basis of the results of a nationwide epidemiological study. The proposed revised criteria will facilitate simpler, faster and more robust diagnosis of WS in the Japanese population.
authors: Department of Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine, Chiba, Japan.
authors: Minoru
authors: M
authors: Takemoto
authors: Seijiro
authors: S
authors: Mori
authors: Masafumi
authors: M
authors: Kuzuya
authors: Shinya
authors: S
authors: Yoshimoto
authors: Akira
authors: A
authors: Shimamoto
authors: Masahiko
authors: M
authors: Igarashi
authors: Yasuhito
authors: Y
authors: Tanaka
authors: Tetsuro
authors: T
authors: Miki
authors: Koutaro
authors: K
authors: Yokote
mesh_terms: D000125:Achilles Tendon / Q000473:pathology; D000293:Adolescent; D000328:Adult; D050197:Atherosclerosis / Q000175:diagnosis; D001847:Bone Diseases / Q000175:diagnosis; D002114:Calcinosis / Q000175:diagnosis; D002386:Cataract / Q000175:diagnosis; D002648:Child; D003241:Consanguinity; D016021:Epidemiologic Studies; D005090:Exodeoxyribonucleases / Q000235:genetics; D019066:Facies; D005260:Female; D005820:Genetic Testing; D044882:Glucose Metabolism Disorders / Q000175:diagnosis; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis; D015994:Incidence; D007564:Japan / Q000453:epidemiology; D052439:Lipid Metabolism Disorders / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009369:Neoplasms / Q000175:diagnosis; D053484:RecQ Helicases / Q000235:genetics; D012871:Skin Diseases / Q000175:diagnosis; D014832:Voice Disorders / Q000175:diagnosis; D014898:Werner Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D000071657:Werner Syndrome Helicase; D055815:Young Adult
chemical_list: D005090:Exodeoxyribonucleases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase