Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations

In this study, we report the further results of an ongoing project on the d elineation of the spectrum of mutations on the ATP7B gene in Wilson disease (WD) patients of Creek origin. We have analyzed 24 additional families and detected 16 mutations (five frameshifts, two splice site, two nonsense, an d seven missense), of which six are novel. On adding these results to the o nes already published by us, we conclude that WD shows a marked allelic het erogeneity in the Creek 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 His1069Gln, which has a frequency of 28.5%, similar to those reported in North European popul ations. Using these data, an efficient strategy of mutation screening for W D is possible in this population, thus improving the possibility of preclin ical diagnosis.