Novel Mutations of ATP7B gene in Iranian patients with Wilsonʹʹs disease

BACKGROUND AND AIM: Wilsonʹs disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Characterization of the spectrum of mutations in this gene 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 blood samples. All the exons of the gene were amplified by polymerase chain reaction using specified primers for each exon. The amplification products were then analyzed by direct automated sequencing. RESULTS: 87% of our patients had liver problems while 47% of suffered from neurological problems. In this study we will report the spectrum of mutation found among Iranian families, which are mainly different from other reports. CONCLUSION: By performing the present study, some new mutations in ATP7B gene, Del C 3696(1232) and S1369L were identified for the first time in Wilsonʹs disease patients.