title: Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
abstract: In this study, we report further results of mutation analysis of the ATP7B gene in Wilson disease (WD) patients of Mediterranean origin. A total of 136 WD chromosomes, 73 of which were of Italian, 43 of Turkish, 18 of Sardinian, and two of Spanish origin, were analysed and the mutation characterised in 84.5% of them. We found 50 different mutations of which 19 are novel, including three nonsense, one frameshift, and 15 missense mutations. The mutations detected were rare and mostly found in the compound heterozygous state together with other mutations and only rarely in homozygosity. Most of these mutations lie in the transmembrane and ATP binding loop regions. These data expand our knowledge of both the structure-function relationships of the WD protein and the molecular pathology of WD, thus improving our capability of prevention and genetic counselling.
authors.affiliation: Ospedale Regionale per Le Microcitemie ASL 8, Via Jenner s/n, 09100 Cagliari, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Loudianos
authors.forename: V
authors.initials: V
authors.lastname: Dessi
authors.forename: M
authors.initials: M
authors.lastname: Lovicu
authors.forename: A
authors.initials: A
authors.lastname: Angius
authors.forename: B
authors.initials: B
authors.lastname: Altuntas
authors.forename: R
authors.initials: R
authors.lastname: Giacchino
authors.forename: M
authors.initials: M
authors.lastname: Marazzi
authors.forename: M
authors.initials: M
authors.lastname: Marcellini
authors.forename: M R
authors.initials: MR
authors.lastname: Sartorelli
authors.forename: G C
authors.initials: GC
authors.lastname: Sturniolo
authors.forename: N
authors.initials: N
authors.lastname: Kocak
authors.forename: A
authors.initials: A
authors.lastname: Yuce
authors.forename: N
authors.initials: N
authors.lastname: Akar
authors.forename: M
authors.initials: M
authors.lastname: Pirastu
authors.forename: A
authors.initials: A
authors.lastname: Cao
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D006527:Hepatolenticular Degeneration / Q000453:epidemiology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D019083:Mediterranean Region / Q000453:epidemiology; D009154:Mutation
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases