Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations

Annalena Correction Figus, Andrea Angius, Georgios Loudianos, Chiara Bertini, Valeria Dessi, Angela Loi, Manila Deiana, Mario Lovicu, Nazario Olla, Gabriella Sole, Stefano De Virgiliis, Franco Lilliu, Anna Maria Giulia Farci, Annamaria Nurchi, Raffaella Giacchino, Arrigo Barabino, Maria Marazzi, Lucia Zancan, Nella A. Greggio, Matilde MarcelliniAntonello Solinas, Angelo Deplano, Cristiana Barbera, Marcella Devoto, Sinasi Ozsoylu, Nurten Kocak, Nejat Akar, Selin Karayalcin, Vahe Mokini, Paskal Cullufi, Angelo Balestrieri, Antonio Cao, Mario Pirastu

Research output: Contribution to journalArticlepeer-review


We analyzed mutations and defined the chromosomal haplotype in 127 patients of Mediterranean descent who were affected by Wilson disease (WD), 39 Sardinians, 49 Italians, 33 Turks, and 6 Albanians. Haplotypes were derived by use of the microsatellite markers D13S301, D13S296, D13S297, and D13S298, which are linked to the WD locus. There were five common haplotypes in Sardinians, three in Italians, and two in Turks, which accounted for 85%, 32%, and 30% of the WD chromosomes, respectively. We identified 16 novel mutations: 8 frameshifts, 7 missense mutations, and 1 splicing defect. In addition, we detected the previously described mutations: 2302insC, 3404delC, Arg1320ter, Gly944-Ser, and His1070Gin. Of the new mutations detected, two, the 1515insT on haplotype I and 2464delC on haplotype XVI, accounted for 6% and 13%, respectively, of the mutations in WD chromosomes in the Sardinian population. Mutations H1070Q, 2302insC, and 2533delA represented 13%, 8%, and 8%, respectively, of the mutations in WD chromosomes in other Mediterranean populations. The remaining mutations were rare and limited to one or two patients from different populations. Thus, WD results from some frequent mutations and many rare defects.

Original languageEnglish
Pages (from-to)1318-1324
Number of pages7
JournalAmerican Journal of Human Genetics
Issue number6
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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