TY - JOUR
T1 - Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations
AU - Correction Figus, Annalena
AU - Angius, Andrea
AU - Loudianos, Georgios
AU - Bertini, Chiara
AU - Dessi, Valeria
AU - Loi, Angela
AU - Deiana, Manila
AU - Lovicu, Mario
AU - Olla, Nazario
AU - Sole, Gabriella
AU - De Virgiliis, Stefano
AU - Lilliu, Franco
AU - Farci, Anna Maria Giulia
AU - Nurchi, Annamaria
AU - Giacchino, Raffaella
AU - Barabino, Arrigo
AU - Marazzi, Maria
AU - Zancan, Lucia
AU - Greggio, Nella A.
AU - Marcellini, Matilde
AU - Solinas, Antonello
AU - Deplano, Angelo
AU - Barbera, Cristiana
AU - Devoto, Marcella
AU - Ozsoylu, Sinasi
AU - Kocak, Nurten
AU - Akar, Nejat
AU - Karayalcin, Selin
AU - Mokini, Vahe
AU - Cullufi, Paskal
AU - Balestrieri, Angelo
AU - Cao, Antonio
AU - Pirastu, Mario
PY - 1995
Y1 - 1995
N2 - 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.
AB - 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.
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M3 - Article
C2 - 8533760
AN - SCOPUS:0028820678
VL - 57
SP - 1318
EP - 1324
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 6
ER -