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a Ospedale Regionale
per Le Microcitemie ASL 8, Via Jenner s/n, 09100 Cagliari, Italy, b Istituto di
Clinica e Biologia dell'Età Evolutiva, Università degli Studi di
Cagliari, Italy, c Istituto di Ricerca sulle Talassemie ed Anemie
Mediterranee, CNR, Cagliari, Italy, d Istituto
di Genetica Molecolare, CNR, Alghero, Italy, e Department of Paediatric
Gastroenterology, Gazi University, Ankara, Turkey, f Divisione Malattie Infettive, Istituto Gaslini,
Genova, Italy, g Clinica di
Malattie Infettive, Istituto Gaslini, Genova, Italy, h Ospedale Pediatrico Bambin Gesu, Roma, Italy, i Gastroenterologia, Padova, Italy, j Gastroenterology Unit, Hacettepe
University, Ankara, Turkey, k Paediatric Molecular Biology Ankara University,
Turkey
Correspondence to: Dr Loudianos.
Revised version received 18 May 1999;
Accepted for publication 7 June 1999
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.
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