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

Maria Barbara Lepori, Antonietta Zappu, Simona Incollu, Valentina Dessì, Eva Mameli, Luigi Demelia, Anna Maria Nurchi, Liana Gheorghe, Giuseppe Maggiore, Marco Sciveres, Vincenzo Leuzzi, Giuseppe Indolfi, Luisa Bonafé, Carlo Casali, Paolo Angeli, Patrizia Barone, Antonio Cao, Georgios Loudianos

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)147-150
Number of pages4
JournalMolecular and Cellular Probes
Issue number4
Publication statusPublished - Aug 2012


  • ATP7B
  • Diagnosis
  • Missense
  • Mutation
  • Prevention
  • Wilson's disease

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology


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