Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis

Wilson's disease (WD), an autosomal recessive disorder of copper transport with a broad range of genotypic and phenotypic characteristics, results from mutations in the ATP7B gene. Herein we report the results of mutation analysis of the ATP7B gene in a group of 118 Wilson disease families (236 chromosomes) prevalently of Italian origin. Using DNA sequencing we identified 83 disease-causing mutations. Eleven were novel, while twenty one already described mutations were identified in new populations in this study. In particular, mutation analysis of 13 families of Romanian origin showed a high prevalence of the p.H1069Q mutation (50%). Detection of new mutations in the ATP7B gene in new populations increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD.

► Mutation analysis of the ATP7B gene was carried out in a group of 118 WD families. ► Sequencing analysis allowed the identification of 83 disease-causing mutations. ► Eleven were novel, while twenty one were identified in new populations in this study. ► Mutation analysis of 13 Romanian families showed prevalence of the p.H1069Q mutation. ► These results increase our capability of molecular diagnosis of WD.