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

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology (2017-08-11)
S Deepak Amalnath, Forough Sargolzaeiaval, Junko Oshima, Dipti Baskar
RESUMO

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.

MATERIAIS
Número do produto
Marca
Descrição do produto

Sigma-Aldrich
Anti-WRN antibody, Mouse monoclonal, clone 195C, purified from hybridoma cell culture