Novel mutations in ATP۷B gene of Wilson's disease in Iranian patients

Bacground: Wilson's 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 ATP۷B 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 ۳۰ definitely diagnosed patients (ages ranging from ۳ to ۳۳). 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: ۸۷% of our patients had liver problems while ۴۷% 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 ATP۷B gene, Del C ۳۶۹۶(۱۲۳۲) and S۱۳۶۹L were identified for the first time in Wilson's disease patients.

کلیدواژه ها:

Wilson's disease ، ATP۷B ، mutation detection ، Iran