AIM: 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. CONCLUSION: 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.
AIM: 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. CONCLUSION: 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: Koutaro Yokote; Sirisak Chanprasert; Lin Lee; Katharina Eirich; Minoru Takemoto; Aki Watanabe; Naoko Koizumi; Davor Lessel; Takayasu Mori; Fuki M Hisama; Paula D Ladd; Brad Angle; Hagit Baris; Kivanc Cefle; Sukru Palanduz; Sukru Ozturk; Antoinette Chateau; Kentaro Deguchi; T K M Easwar; Antonio Federico; Amy Fox; Theresa A Grebe; Beverly Hay; Sheela Nampoothiri; Karen Seiter; Elizabeth Streeten; Raul E Piña-Aguilar; Gemma Poke; Martin Poot; Renata Posmyk; George M Martin; Christian Kubisch; Detlev Schindler; Junko Oshima Journal: Hum Mutat Date: 2016-10-07 Impact factor: 4.878
Authors: Takashi Tadokoro; Ivana Rybanska-Spaeder; Tomasz Kulikowicz; Lale Dawut; Junko Oshima; Deborah L Croteau; Vilhelm A Bohr Journal: DNA Repair (Amst) Date: 2013-04-11
Authors: Lucie Aumailley; Marie Julie Dubois; Tracy A Brennan; Chantal Garand; Eric R Paquet; Robert J Pignolo; André Marette; Michel Lebel Journal: FASEB J Date: 2018-02-08 Impact factor: 5.191