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

• Published in: Molecular and cellular probes Vol. 26; no. 4; pp. 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: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.08.2012
• 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; Italy; Prevention; ATP7B; Mutation; Diagnosis; Wilson's disease; Missense
• ISSN: 0890-8508; 1096-1194
• DOI: 10.1016/j.mcp.2012.03.007

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.