title: Haplotype and mutation analysis in Greek patients with Wilson disease.
abstract: In this study, we report the results of haplotype and mutation analysis of the ATP7B gene in Wilson disease (WD) patients of Greek origin. We have analysed 25 WD families and two single patients and characterised 94% of the WD chromosomes investigated. We have found 12 different molecular defects (three frameshifts, two splice site, two nonsense, five missense mutations), four of which are novel. Five of the mutations are widely prevalent accounting for 74% of the WD chromosomes analysed. These results may enable preclinical diagnosis in the large majority of WD patients of Greek descent, thereby improving genetic counselling and disease management.
authors.affiliation: Ospedale Regionale per Le Microcitemie, Cagliari, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Loudianos
authors.forename: V
authors.initials: V
authors.lastname: Dessì
authors.forename: M
authors.initials: M
authors.lastname: Lovicu
authors.forename: A
authors.initials: A
authors.lastname: Angius
authors.forename: E
authors.initials: E
authors.lastname: Kanavakis
authors.forename: M
authors.initials: M
authors.lastname: Tzetis
authors.forename: C
authors.initials: C
authors.lastname: Kattamis
authors.forename: N
authors.initials: N
authors.lastname: Manolaki
authors.forename: G
authors.initials: G
authors.lastname: Vassiliki
authors.forename: T
authors.initials: T
authors.lastname: Karpathios
authors.forename: A
authors.initials: A
authors.lastname: Cao
authors.forename: M
authors.initials: M
authors.lastname: Pirastu
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D017931:DNA Primers; D005838:Genotype; D006115:Greece / Q000208:ethnology; D006239:Haplotypes; D006527:Hepatolenticular Degeneration / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D017931:DNA Primers