TY - JOUR T1 - Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations JF - Journal of Medical Genetics JO - J Med Genet SP - 833 LP - 836 DO - 10.1136/jmg.36.11.833 VL - 36 IS - 11 AU - Georgios Loudianos AU - Valeria Dessi AU - Mario Lovicu AU - Andrea Angius AU - Buket Altuntas AU - Raffaella Giacchino AU - Maria Marazzi AU - Matilde Marcellini AU - Maria Rita Sartorelli AU - Giacomo Carlo Sturniolo AU - Nurten Kocak AU - Aysel Yuce AU - Nejat Akar AU - Mario Pirastu AU - Antonio Cao Y1 - 1999/11/01 UR - http://jmg.bmj.com/content/36/11/833.abstract N2 - In this study, we report further results of mutation analysis of the ATP7B gene in Wilson disease (WD) patients of Mediterranean origin. A total of 136 WD chromosomes, 73 of which were of Italian, 43 of Turkish, 18 of Sardinian, and two of Spanish origin, were analysed and the mutation characterised in 84.5% of them. We found 50 different mutations of which 19 are novel, including three nonsense, one frameshift, and 15 missense mutations. The mutations detected were rare and mostly found in the compound heterozygous state together with other mutations and only rarely in homozygosity. Most of these mutations lie in the transmembrane and ATP binding loop regions. These data expand our knowledge of both the structure-function relationships of the WD protein and the molecular pathology of WD, thus improving our capability of prevention and genetic counselling. ER -