Literature DB >> 28795391

Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation.

S Deepak Amalnath1, Forough Sargolzaeiaval2, Junko Oshima2, Dipti Baskar3.   

Abstract

Werner syndrome is a rare progeroid syndrome caused by the WRN gene mutation. It is characterized by a general appearance of premature aging, diabetes mellitus, and atherosclerosis, and an increased risk of malignancies. We report a patient who presented with hematemesis due to cirrhosis of liver and was subsequently diagnosed with Werner syndrome. Further genetic analysis showed a novel mutation in the WRN gene which has not previously been reported. Werner syndrome should be considered for the cases of liver cirrhosis when accompanied by the features of accelerated aging.

Entities:  

Keywords:  Cirrhosis; WRN; Werner syndrome

Mesh:

Substances:

Year:  2017        PMID: 28795391      PMCID: PMC5648602          DOI: 10.1007/s12664-017-0781-1

Source DB:  PubMed          Journal:  Indian J Gastroenterol        ISSN: 0254-8860


  9 in total

1.  Astaxanthin Improves Nonalcoholic Fatty Liver Disease in Werner Syndrome with Diabetes Mellitus.

Authors:  Minoru Takemoto; Masaya Yamaga; Yasuhiro Furuichi; Koutaro Yokote
Journal:  J Am Geriatr Soc       Date:  2015-06       Impact factor: 5.562

2.  Aortic valve replacement for aortic stenosis with a small aortic annulus in a patient having Werner's syndrome and liver cirrhosis.

Authors:  M Sogawa; S Kasuya; K Yamamoto; M Koshika; F Oguma; J Hayashi
Journal:  Ann Thorac Cardiovasc Surg       Date:  2001-12       Impact factor: 1.520

3.  The Werner syndrome protein is a DNA helicase.

Authors:  M D Gray; J C Shen; A S Kamath-Loeb; A Blank; B L Sopher; G M Martin; J Oshima; L A Loeb
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

4.  The spectrum of WRN mutations in Werner syndrome patients.

Authors:  Shurong Huang; Lin Lee; Nancy B Hanson; Catherine Lenaerts; Holger Hoehn; Martin Poot; Craig D Rubin; Da-Fu Chen; Chih-Chao Yang; Heike Juch; Thomas Dorn; Roland Spiegel; Elif Arioglu Oral; Mohammed Abid; Carla Battisti; Emanuela Lucci-Cordisco; Giovanni Neri; Erin H Steed; Alexa Kidd; William Isley; David Showalter; Janet L Vittone; Alexander Konstantinow; Johannes Ring; Peter Meyer; Sharon L Wenger; Axel von Herbay; Uwe Wollina; Markus Schuelke; Carin R Huizenga; Dru F Leistritz; George M Martin; I Saira Mian; Junko Oshima
Journal:  Hum Mutat       Date:  2006-06       Impact factor: 4.878

Review 5.  WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

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

6.  Cirrhosis in Werner's syndrome: an unusual presentation of premature aging.

Authors:  Abdul Hakeem; Shahzad Reza; Salman Moinuddin; Sabha Bhatti; Imran Khalid; Rahat Noor; Khalid Mahmood
Journal:  Med Sci Monit       Date:  2007-05

7.  Liver aging and pseudocapillarization in a Werner syndrome mouse model.

Authors:  Victoria C Cogger; Dmitri Svistounov; Alessandra Warren; Svetlana Zykova; Richard G Melvin; Samantha M Solon-Biet; Jennifer N O'Reilly; Aisling C McMahon; J William O Ballard; Rafa De Cabo; David G Le Couteur; Michel Lebel
Journal:  J Gerontol A Biol Sci Med Sci       Date:  2013-10-22       Impact factor: 6.053

8.  Werner syndrome as a possible cause of non-alcoholic steatohepatitis.

Authors:  H Hashizume; K Sato; H Takagi; D Kanda; T Kashihara; S Kiso; M Mori
Journal:  J Clin Pathol       Date:  2009-08-30       Impact factor: 3.411

9.  Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry.

Authors:  Bidisha Saha; Davor Lessel; Sheela Nampoothiri; Anuradha S Rao; Fuki M Hisama; Dincy Peter; Chris Bennett; Gudrun Nürnberg; Peter Nürnberg; George M Martin; Christian Kubisch; Junko Oshima
Journal:  Mol Genet Genomic Med       Date:  2013-05-01       Impact factor: 2.183

  9 in total

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