HAPLOTYPE AND MUTATION ANALYSIS IN GREEK PATIENTS WITH WILSON-DISEASE

In this study, we report the results of haplotype and mutation analysi s of the ATP7B gene in Wilson disease (WD) patients of Greek origin. W e have analysed 25 WD families and two single patients and characteris ed 94% of the WD chromosomes investigated. We have found 12 different molecular defects (three frameshifts, two splice site, two nonsense, f ive missense mutations), four of which are novel. Five of the mutation s are widely prevalent accounting for 74% of the WD chromosomes analys ed. These results may enable preclinical diagnosis in the large majori ty of WD patients: of Greek descent, thereby improving genetic counsel ling and disease management.