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Genetic Testing
Twenty-Four Novel Mutations in Wilson Disease Patients of Predominantly Italian Origin
To cite this article:
Maria Barbara Lepori, Mario Lovicu, Valentina Dessi, Antonietta Zappu, Simona Incollu, Lucia Zancan, Raffaella Giacchino, Raffaele Iorio, Pietro Vajro, Giuseppe Maggiore, Matilde Marcellini, Cristiana Barbera, Maria Teresa Pellecchia, Rosanna Simonetti, Vladimir Kostic, Anna Maria Giulia Farci, Antonello Solinas, Stefano De Virgiliis, Antonio Cao, Georgios Loudianos.
Genetic Testing.
September 2007,
11(3): 328-332.
doi:10.1089/gte.2007.0015.
Maria Barbara Lepori Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy. Mario Lovicu Istituto di Neurogenetica e Neurofarmacologia, CNR-Cagliari, Italy. Valentina Dessi Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy. Antonietta Zappu Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy. Simona Incollu Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy. Lucia Zancan Dipartimento di Pediatria, University di Padova, Padua, Italy. Raffaella Giacchino Divisione Malattie Infettive, Istituto Gaslini, Genova, Italy. Raffaele Iorio Dipartimento di Pediatria, Università Federico II, Naples, Italy. Pietro Vajro Dipartimento di Pediatria, Università Federico II, Naples, Italy. Giuseppe Maggiore Dipartimento di Medicina della Procreazione e dell' Età Evolutiva, Pisa, Italy. Matilde Marcellini Ospedale Pediatrico Bambin Gesu, Roma, Italy. Cristiana Barbera Clinica Pediatrica, Università di Torino, Italy. Maria Teresa Pellecchia Dipartimento di Scienze Neurologiche, Università Federico II, Naples, Italy. Rosanna Simonetti, Divisione di Medicina Generale, Azienda Ospedaliera V.Cervello, Palermo, Italy. Vladimir Kostic Institute of Neurology-Clinical Center of Serbia, Belgrade, Yugoslavia. Anna Maria Giulia Farci Dipartimento Scienze Mediche ed Internistiche, Universit  di Cagliari, Italy. Antonello Solinas Istituto di Patologia Medica, Universit di Sassari, Italy. Stefano De Virgiliis Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy. Antonio Cao Istituto di Neurogenetica e Neurofarmacologia, CNR-Cagliari, Italy. Georgios Loudianos Ospedale Regionale per le Microcitemie, Cagliari, Italy. 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.  This paper was cited by:RNA Analysis of Consensus Sequence Splicing Mutations: Implications for the Diagnosis of Wilson Disease Mario Lovicu, Maria Barbara Lepori, Simona Incollu, Valentina Dessì, Antonietta Zappu, Raffaele Iorio, Mariangela D'Ambrosi, Maria Teresa Pellecchia, Paolo Barone, Giuseppe Maggiore, Stefano De Virgiliis, Antonio Cao, Georgios Loudianos Genetic Testing and Molecular Biomarkers. Apr 2009, Vol. 13, No. 2: 185-191 Abstract | Full Text PDF | Reprints & PermissionsHigh Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs Zappu Antonietta, Magli Olympia, Maria Barbara Lepori, Dessì Valentina, Diana Stefania, Incollu Simona, Kanavakis Emmanuel, Nicolaidou Polyxeni, Manolaki Nina, Fretzayas Andreas, De Virgiliis Stefano, Cao Antonio, Loudianos Georgios Journal of Pediatric Gastroenterology and Nutrition. Oct 2008, Vol. 47, No. 3: 334-338 CrossRef |
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