Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene
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....
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Academia Brasileira de Neurologia (ABNEURO)
2013-08-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000800503&lng=en&tlng=en |
| _version_ | 1829101357417627648 |
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| author | Ricardo Schmitt de Bem Salmo Raskin Dominique Araujo Muzzillo Marta Mitiko Deguti Eduardo Luiz Rachid Cancado Thiago Ferreira Araujo Maria Cristina Nakhle Egberto Reis Barbosa Renato Puppi Munhoz Helio Afonso Ghizoni Teive |
| author_facet | Ricardo Schmitt de Bem Salmo Raskin Dominique Araujo Muzzillo Marta Mitiko Deguti Eduardo Luiz Rachid Cancado Thiago Ferreira Araujo Maria Cristina Nakhle Egberto Reis Barbosa Renato Puppi Munhoz Helio Afonso Ghizoni Teive |
| author_sort | Ricardo Schmitt de Bem |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-10T22:45:43Z |
| format | Article |
| id | doaj.art-1351e451eb184bb784afeeb43317f6b7 |
| institution | Directory Open Access Journal |
| issn | 1678-4227 |
| language | English |
| last_indexed | 2024-12-10T22:45:43Z |
| publishDate | 2013-08-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-1351e451eb184bb784afeeb43317f6b72022-12-22T01:30:35ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria1678-42272013-08-0171850350710.1590/0004-282X20130078S0004-282X2013000800503Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B geneRicardo Schmitt de BemSalmo RaskinDominique Araujo MuzzilloMarta Mitiko DegutiEduardo Luiz Rachid CancadoThiago Ferreira AraujoMaria Cristina NakhleEgberto Reis BarbosaRenato Puppi MunhozHelio Afonso Ghizoni TeiveOBJECTIVE: 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000800503&lng=en&tlng=endegeneracao hepatolenticularsinais e sintomasgenetica |
| spellingShingle | Ricardo Schmitt de Bem Salmo Raskin Dominique Araujo Muzzillo Marta Mitiko Deguti Eduardo Luiz Rachid Cancado Thiago Ferreira Araujo Maria Cristina Nakhle Egberto Reis Barbosa Renato Puppi Munhoz Helio Afonso Ghizoni Teive Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene Arquivos de Neuro-Psiquiatria degeneracao hepatolenticular sinais e sintomas genetica |
| title | Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene |
| title_full | Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene |
| title_fullStr | Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene |
| title_full_unstemmed | Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene |
| title_short | Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene |
| title_sort | wilson s disease in southern brazil genotype phenotype correlation and description of two novel mutations in atp7b gene |
| topic | degeneracao hepatolenticular sinais e sintomas genetica |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000800503&lng=en&tlng=en |
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