title: 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.
authors.affiliation: Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy.
authors.forename: Maria-Barbara
authors.initials: MB
authors.lastname: Lepori
authors.forename: Antonietta
authors.initials: A
authors.lastname: Zappu
authors.forename: Simona
authors.initials: S
authors.lastname: Incollu
authors.forename: Valentina
authors.initials: V
authors.lastname: Dessì
authors.forename: Eva
authors.initials: E
authors.lastname: Mameli
authors.forename: Luigi
authors.initials: L
authors.lastname: Demelia
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Nurchi
authors.forename: Liana
authors.initials: L
authors.lastname: Gheorghe
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Maggiore
authors.forename: Marco
authors.initials: M
authors.lastname: Sciveres
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Leuzzi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Indolfi
authors.forename: Luisa
authors.initials: L
authors.lastname: Bonafé
authors.forename: Carlo
authors.initials: C
authors.lastname: Casali
authors.forename: Paolo
authors.initials: P
authors.lastname: Angeli
authors.forename: Patrizia
authors.initials: P
authors.lastname: Barone
authors.forename: Antonio
authors.initials: A
authors.lastname: Cao
authors.forename: Georgios
authors.initials: G
authors.lastname: Loudianos
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D005838:Genotype; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007558:Italy; D009154:Mutation; D010641:Phenotype; D017422:Sequence Analysis, DNA; D044465:White People
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases