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...

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Bibliographic Details
Published in:Molecular and cellular probes 2012-08, Vol.26 (4), p.147-150
Main Authors: Lepori, Maria-Barbara, Zappu, Antonietta, Incollu, Simona, Dessì, Valentina, Mameli, Eva, Demelia, Luigi, Nurchi, Anna Maria, Gheorghe, Liana, Maggiore, Giuseppe, Sciveres, Marco, Leuzzi, Vincenzo, Indolfi, Giuseppe, Bonafé, Luisa, Casali, Carlo, Angeli, Paolo, Barone, Patrizia, Cao, Antonio, Loudianos, Georgios
Format: Article
Language:English
Subjects:
Adenosine Triphosphatases - genetics
ATP7B
Cation Transport Proteins - genetics
Copper-transporting ATPases
Diagnosis
DNA Mutational Analysis
European Continental Ancestry Group
Genotype
Hepatolenticular Degeneration - diagnosis
Hepatolenticular Degeneration - ethnology
Hepatolenticular Degeneration - genetics
Humans
Italy
Missense
Mutation
Phenotype
Prevention
Sequence Analysis, DNA
Wilson's disease
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Summary: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.
ISSN:0890-8508
1096-1194
DOI:10.1016/j.mcp.2012.03.007