Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

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dc.contributor Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.author BEM, Ricardo Schmitt de
RASKIN, Salmo
MUZZILLO, Dominique Araujo
DEGUTI, Marta Mitiko FMUSP-HC
CANCADO, Eduardo Luiz Rachid FMUSP-HC
ARAUJO, Thiago Ferreira FMUSP-HC
NAKHLE, Maria Cristina FMUSP-HC
BARBOSA, Egberto Reis FMUSP-HC
MUNHOZ, Renato Puppi
TEIVE, Helio Afonso Ghizoni
dc.date.issued 2013
dc.identifier.citation ARQUIVOS DE NEURO-PSIQUIATRIA, v.71, n.8, p.503-507, 2013
dc.identifier.issn 0004-282X
dc.identifier.uri http://observatorio.fm.usp.br/handle/OPI/4062
dc.description.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.
dc.description.sponsorship · Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [06/00449-1]
dc.language.iso eng
dc.publisher ASSOC ARQUIVOS NEURO- PSIQUIATRIA
dc.relation.ispartof Arquivos de Neuro-Psiquiatria
dc.rights openAccess
dc.subject hepatolenticular degeneration; signs and symptoms; genetics
dc.subject.other copper transporting atpase; identification; population; spectrum; impact
dc.title Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene
dc.type article
dc.rights.holder Copyright ASSOC ARQUIVOS NEURO- PSIQUIATRIA
dc.description.group LIM/06
dc.description.group LIM/45
dc.identifier.doi 10.1590/0004-282X20130078
dc.identifier.pmid 23982005
dc.type.category original article
dc.type.version publishedVersion
hcfmusp.author DEGUTI, Marta Mitiko:HC:ICHC
hcfmusp.author CANCADO, Eduardo Luiz Rachid:FM:MGT
hcfmusp.author ARAUJO, Thiago Ferreira:FM:
hcfmusp.author NAKHLE, Maria Cristina:IMT:
hcfmusp.author BARBOSA, Egberto Reis:HC:ICHC
hcfmusp.author.external · BEM, Ricardo Schmitt de:UFPR, Dept Internal Med, Gastroenterol & Hepatol Serv, Curitiba, Parana, Brazil
· RASKIN, Salmo:PUC PR, Ctr Hlth & Biol Sci, Curitiba, Parana, Brazil
· MUZZILLO, Dominique Araujo:UFPR, Dept Internal Med, Gastroenterol & Hepatol Serv, Curitiba, Parana, Brazil
· MUNHOZ, Renato Puppi:UFPR, Dept Internal Med, Neurol Serv, Curitiba, Parana, Brazil
· TEIVE, Helio Afonso Ghizoni:UFPR, Dept Internal Med, Neurol Serv, Curitiba, Parana, Brazil
hcfmusp.origem.id 2-s2.0-84883333284
hcfmusp.origem.id WOS:000323296600003
hcfmusp.origem.id SCIELO:S0004-282X2013000800503
hcfmusp.publisher.city SAO PAULO SP
hcfmusp.publisher.country BRAZIL
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dc.description.index MEDLINE
hcfmusp.citation.scopus 9
hcfmusp.citation.wos 9
hcfmusp.affiliation.country Brasil


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