Novel Mutations of ATP7B gene in Iranian patients with Wilson''s disease

Background and aim: wilson's disease is a rare autosomal recessivedisorder characterized by toxic accumulation of copper in liver and brain. thedisorder is caused by mutations in the atp7b gene, encoding a coppertransporting p-type atpase. characterization of the spectrum of mutations in thisgene is important both for diagnosis and genetic counseling of the families.materials and methods: we enrolled 30 definitely diagnosed patients(ages ranging from 3 to 33). genomic dna was extracted from peripheral bloodsamples. all the exons of the gene were amplified by polymerase chain reactionusing specified primers for each exon. the amplification products were thenanalyzed by direct automated sequencing.results: 87% of our patients had liver problems while 47% of suffered fromneurological problems. in this study we will report the spectrum of mutation foundamong iranian families, which are mainly different from other reports.conclusion: by performing the present study, some new mutations inatp7b gene, del c 3696(1232) and s1369l were identified for the first time inwilson's disease patients.