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Title: | Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene |
Authors: | BEM, Ricardo Schmitt de; RASKIN, Salmo; MUZZILLO, Dominique Araujo; DEGUTI, Marta Mitiko; CANCADO, Eduardo Luiz Rachid; ARAUJO, Thiago Ferreira; NAKHLE, Maria Cristina; BARBOSA, Egberto Reis; MUNHOZ, Renato Puppi; TEIVE, Helio Afonso Ghizoni |
Citation: | ARQUIVOS DE NEURO-PSIQUIATRIA, v.71, n.8, p.503-507, 2013 |
Abstract: | Objective: Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil. Methods: 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed. Results: Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1%) followed by the c.3402delC at exon 15 (allelic frequency=11.4%). The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time. Conclusion: The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MGT Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - IMT Artigos e Materiais de Revistas Científicas - LIM/06 Artigos e Materiais de Revistas Científicas - LIM/45 |
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art_DEGUTI_Wilson_s_disease_in_Southern_Brazil_genotype_phenotype_2013.PDF | publishedVersion (English) | 121.4 kB | Adobe PDF | View/Open |
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