title: Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.
abstract: In this study, we report the further results of an ongoing project on the delineation of the spectrum of mutations on the ATP7B gene in Wilson disease (WD) patients of Greek origin. We have analyzed 24 additional families and detected 16 mutations (five frameshifts, two splice site, two nonsense, and seven missense), of which six are novel. On adding these results to the ones already published by us, we conclude that WD shows a marked allelic heterogeneity in the Greek population. Of the total number of mutations so far detected, the most common eight account for the molecular defect in 72.8% of the WD chromosomes. The most frequent mutation is the His0169Gln, which has a frequency of 28.5%, similar to those reported in North European populations. Using these data, an efficient strategy of mutation screening for WD is possible in this population, thus improving the possibility of preclinical diagnosis.
authors.affiliation: Ospedale Regionale per Le Microcitemie, Cagliari, Italy. gloudian@mcweb.unica.it
authors.forename: G
authors.initials: G
authors.lastname: Loudianos
authors.forename: M
authors.initials: M
authors.lastname: Lovicu
authors.forename: P
authors.initials: P
authors.lastname: Solinas
authors.forename: E
authors.initials: E
authors.lastname: Kanavakis
authors.forename: M
authors.initials: M
authors.lastname: Tzetis
authors.forename: N
authors.initials: N
authors.lastname: Manolaki
authors.forename: E
authors.initials: E
authors.lastname: Panagiotakaki
authors.forename: T
authors.initials: T
authors.lastname: Karpathios
authors.forename: A
authors.initials: A
authors.lastname: Cao
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000483:Alleles; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D005820:Genetic Testing; D006115:Greece / Q000453:epidemiology; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases