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

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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.

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Acknowledgements

This work was in part supported by the NIH grant, R01CA210916 (JO).

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Authors and Affiliations

  1. Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Dhanvantri Nagar, Gorimedu, Puducherry, 605 006, India

    S. Deepak Amalnath & Dipti Baskar

  2. Department of Pathology, University of Washington, Seattle, WA, 98195, USA

    Forough Sargolzaeiaval & Junko Oshima

Authors
  1. S. Deepak Amalnath
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  2. Forough Sargolzaeiaval
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  3. Junko Oshima
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  4. Dipti Baskar
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Correspondence to S. Deepak Amalnath.

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Amalnath, S.D., Sargolzaeiaval, F., Oshima, J. et al. Uncommon cause of cirrhosis—A case of Werner syndrome with a novel WRN mutation. Indian J Gastroenterol 36, 323–325 (2017). https://doi.org/10.1007/s12664-017-0781-1

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  • DOI: https://doi.org/10.1007/s12664-017-0781-1

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