Molecular and Genetic Medicine

Tahereh Malakoutian

Publications

• Mini Review
  First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD
  Author(s): Tahereh Malakoutian, Atefeh Amouzegar, Farzaneh Vali, Mojgan Asgari and Babak BehnamTahereh Malakoutian, Atefeh Amouzegar, Farzaneh Vali, Mojgan Asgari and Babak Behnam
  
  Uromodulin (UMOD) gene mutation causes autosomal dominant Uromodulin-Associated Kidney Disease (UAKD), which in turn leads to end-stage renal disease. This is the first case report of a family with UAKD caused by a novel de novo mutation (E197X) in the UMOD gene. This case is a 28-year-old man with severely reduced kidney function [1]. No similar case was reported in his family history. This report highlights and reminds the importance of genetic screening in young patients involving kidney dysfunction, as the UAKD and some other kidney genetic diseases may be late-onset. .. Read More»
  

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