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Case Reports
. 2010 Jun 15:6:33.
doi: 10.1186/1744-9081-6-33.

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

Arnab Gupta  1 , Ishita Chattopadhyay, Shashwata Mukherjee, Mainak Sengupta, Shyamal K Das, Kunal Ray
Affiliations
Case Reports

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

Arnab Gupta et al. Behav Brain Funct. .

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.

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Figures

Figure 1
Figure 1
Electropherogram showing the position of a novel putative mutation c.521 ACG>ATG (Thr174Met) in COMMD1. The altered base (C>T) has been marked by an arrow. The nucleotide change and corresponding alteration in the amino acid are indicated at the bottom of the panel.
See this image and copyright information in PMC

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