title: Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
abstract: Herein we report the results of mutation analysis of the ATP7B gene in a group of 134 Wilson disease (WD) families (268 chromosomes) prevalently of Italian origin. Using the SSCP and sequencing methods we identified 71 disease-causing mutations. Twenty-four were novel, while 19 more mutations already described, were identified in new populations in this study. A known mutation G591D showed a regional distribution, since it was only detected in 38.5% of the analyzed chromosomes in WD patients originating from Apulia, a region of South Italy. Detection of new mutations in the ATP7B gene 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: Mario
authors.initials: M
authors.lastname: Lovicu
authors.forename: Valentina
authors.initials: V
authors.lastname: Dessi
authors.forename: Antonietta
authors.initials: A
authors.lastname: Zappu
authors.forename: Simona
authors.initials: S
authors.lastname: Incollu
authors.forename: Lucia
authors.initials: L
authors.lastname: Zancan
authors.forename: Raffaella
authors.initials: R
authors.lastname: Giacchino
authors.forename: Raffaele
authors.initials: R
authors.lastname: Iorio
authors.forename: Pietro
authors.initials: P
authors.lastname: Vajro
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Maggiore
authors.forename: Matilde
authors.initials: M
authors.lastname: Marcellini
authors.forename: Cristiana
authors.initials: C
authors.lastname: Barbera
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Pellecchia
authors.forename: Rosanna
authors.initials: R
authors.lastname: Simonetti
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kostic
authors.forename: Anna Maria Giulia
authors.initials: AM
authors.lastname: Farci
authors.forename: Antonello
authors.initials: A
authors.lastname: Solinas
authors.forename: Stefano
authors.initials: S
authors.lastname: De Virgiliis
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; D006527:Hepatolenticular Degeneration / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007558:Italy; D009154:Mutation
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases