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. © 2007 Mary Ann Liebert, Inc.

Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin

Maggiore, Giuseppe;
2007

Abstract

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. © 2007 Mary Ann Liebert, Inc.
Lepori, Maria Barbara; Lovicu, Mario; Dessi, Valentina; Zappu, Antonietta; Incollu, Simona; Zancan, Lucia; Giacchino, Raffaella; Iorio, Raffaele; Vajro, Pietro; Maggiore, Giuseppe; Marcellini, Matilde; Barbera, Cristiana; Pellecchia, Maria Teresa; Simonetti, Rosanna; Kostic, Vladimir; Farci, Anna Maria Giulia; Solinas, Antonello; De Virgiliis, Stefano; Cao, Antonio; Loudianos, Georgios
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/2387162
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