title: A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient.
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.
authors.affiliation: Molecular and Human Genetics Division, Indian Institute of Chemical Biology, Kolkata, India.
authors.forename: Arnab
authors.initials: A
authors.lastname: Gupta
authors.forename: Ishita
authors.initials: I
authors.lastname: Chattopadhyay
authors.forename: Shashwata
authors.initials: S
authors.lastname: Mukherjee
authors.forename: Mainak
authors.initials: M
authors.lastname: Sengupta
authors.forename: Shyamal K
authors.initials: SK
authors.lastname: Das
authors.forename: Kunal
authors.initials: K
authors.lastname: Ray
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D017209:Apoptosis; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D003300:Copper / Q000652:urine*; D005190:Family; D056726:Genetic Association Studies; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000473:pathology* / Q000652:urine; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D017354:Point Mutation; D017422:Sequence Analysis, DNA
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C480519:COMMD1 protein, human; D002352:Carrier Proteins; D003300:Copper