Haplotype and mutation analysis in Mediterranean patients with Wilson disease

Wilson disease is an autosomal recessive disorder of copper transport resulting from the defective function of a copper transporting P-type ATPasi (ATP7B). We have carried out mutational analysis in 295 patients of Mediterranean origin with Wilson Disease, including 85 Sardinians, 120 Continental Italians, 49 Turkish, 32 Greek, 7 Albanians and 2 Spanish. We have identified 102 mutations, a few have been described in other non Mediterranean populations. The most common are His1069Gln, 2530delA, Arg969Gln and 2299insC. The mutations were usually associated with the same haplotype although some of them were linked to different haplotypes. From this data Wilson disease in Mediterranean populations seems to result from a limited number of relatively common mutations, and from a large number of rare. Mutation, and/or haplotype analysis may be used for carrier screening and preclinical diagnosis