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

Abstract

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.

DOI: 10.1016/j.mcp.2012.03.007

Cite this paper

@article{Lepori2012MutationAO, title={Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.}, author={Maria-Barbara Lepori and Antonietta Zappu and Simona Incollu and Valentina Dess{\`i} and Eva Mameli and Luigi Demelia and Anna Maria Nurchi and Liliana Simona Gheorghe and Giuseppe Maggiore and M . Garcia - Sciveres and Vincenzo Leuzzi and Giuseppe Indolfi and Luisa Bonafė and Carlo Casali and Paolo Angeli and Patrizia Barone and Antonio Cao and Georgios Loudianos}, journal={Molecular and cellular probes}, year={2012}, volume={26 4}, pages={147-50} }