Herein we report the results of mutation analysis of the ATP7B gene in a group of 134 Wilson disease (WD) families (268 chromosomes) prevalently of Italian origin. Using the SSCP and sequencing methods we identified 71 disease-causing mutations. Twenty-four were novel, while 19 more mutations already described, were identified in new populations in this study. A known mutation G591D showed a regional distribution, since it was only detected in 38.5% of the analyzed chromosomes in WD patients originating from Apulia, a region of South Italy. Detection of new mutations in the ATP7B gene increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD.
|Autori:||M.B. LEPORI; M.LOVICU; V.DESSI; A.ZAPPU; S.INCOLLU; L.ZANCAN; R.GIACCHINO; R. IORIO; P. VAJRO; MAGGIORE G; M.MARCELLINI; C.BARBERA; M.T.PELLECCHIA; R.SIMONETTI; V.KOSTIC; A.M.G.FARCI; A.SOLINAS; S.DE VIRGILIS; A.CAO; G. LOUDIANOS|
|Titolo:||Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin|
|Anno del prodotto:||2007|
|Appare nelle tipologie:||1.1 Articolo in rivista|