Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7B Gene Mutation at Codon 778 in Southwest Iran

Wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. Inactivation of the ATP7B gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. Therefore, most patients suffer from chronic hepatic inflammation and central nervous system disorder. Nowadays, up to 500 mutations were found in the ATP7B gene that weaken or fully disrupt the function of the gene product. Recurrent mutations were found in different population. We found a homozygous pathogenic missense mutation at codon 778 (R778W) in an individual from southwest Iran. This mutation has been reported in previous studies in the continents America and Europe. The present study is the first report from Wilson disease that has been diagnosed in southwest Iran. This mutation has been shown in previous studies in patients from continents America and Europe.