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.
|Autori interni:||MAGGIORE, GIUSEPPE|
|Autori:||Lepori MB; Zappu A; Incollu S; Dessì V; Mameli E; Demelia L; Nurchi AM; Gheorghe L; Maggiore G; Sciveres M; Leuzzi V; Indolfi G; Bonafé L; Casali C; Angeli P; Barone P; Cao A; Loudianos G.|
|Titolo:||Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis|
|Anno del prodotto:||2012|
|Appare nelle tipologie:||1.1 Articolo in rivista|