A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase

Gene. 2014 Mar 15;538(1):204-6. doi: 10.1016/j.gene.2013.10.044. Epub 2013 Oct 27.

Abstract

Wilson's disease (WD) is a rare disorder of copper metabolism resulting in accumulation of copper in liver and other organs. We present a liver failure patient, who was misdiagnosed for two years, with normal ceruloplasmin and low serum alkaline phosphatase. Molecular testing revealed a novel p.Ala982Thr mutation within ATP7B gene. The pathology of liver sample showed a large amount of copper deposition in the hepatocytes and confirmed the diagnosis of WD. Our data highlighted the importance of molecular testing in the early diagnosis of atypical WD.

Keywords: Genetics; Liver failure; Pathology; Wilson's disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adult
  • Alkaline Phosphatase / blood
  • Cation Transport Proteins / genetics*
  • Ceruloplasmin / analysis
  • Copper-Transporting ATPases
  • Female
  • Hepatolenticular Degeneration / diagnosis
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / pathology
  • Humans
  • Liver Failure / diagnosis
  • Liver Failure / genetics*
  • Liver Failure / pathology
  • Mutation*

Substances

  • Cation Transport Proteins
  • Ceruloplasmin
  • Alkaline Phosphatase
  • Adenosine Triphosphatases
  • ATP7B protein, human
  • Copper-Transporting ATPases