A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient

Behav Brain Funct. 2010 Jun 15;6:33. doi: 10.1186/1744-9081-6-33.

Abstract

Wilson disease (WD) results from accumulation of copper and caused due to mutations in ATP7B, a copper transporting ATPase. Besides regular hepatic and neurological symptoms, WD patients occasionally manifest atypical symptoms due to unknown cause. To understand the molecular etiology of atypical WD manifestations, we screened COMMD1, a gene implicated in canine copper toxicosis, in 109 WD patients including those with atypical symptoms. In a patient showing apoptotic symptoms and high urinary copper surpassing normal WD levels, we identified a novel, putative mutation in COMMD1. Two other changes were also identified in the gene. We have examined genotype-phenotype correlation between the detected changes and the atypical presentation of the WD patient.

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Apoptosis*
  • Base Sequence
  • Carrier Proteins / genetics*
  • Child
  • Copper / urine*
  • Family
  • Genetic Association Studies
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / pathology*
  • Hepatolenticular Degeneration / urine
  • Humans
  • Male
  • Mutation, Missense*
  • Phenotype
  • Point Mutation
  • Sequence Analysis, DNA

Substances

  • Adaptor Proteins, Signal Transducing
  • COMMD1 protein, human
  • Carrier Proteins
  • Copper