A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria

Detalhes bibliográficos
Autor(a) principal: Ribeiro,Georgina Severo
Data de Publicação: 2007
Outros Autores: Marchiori,Paulo Eurípedes, Hirata,Mário Hiroyuki, Rebecchi,Ivanise, Ozaki,Adriana Natsue, Nagai,Maria Aparecida, Santos,Mariana Lopes dos, Oliveira,Raimundo Antonio Gomes, Barretto,Orlando Cesar de Oliveira
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600003
Resumo: Acute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.3. We describe a novel mutation of the HMBS gene, a de novo 3-base deletion in the splicing donor site of intron 3 (IVS3+2_4delTGG) in a woman affected by AIP. RT-PCR analysis revealed an abnormal HMBS mRNA, compatible with exon 3 skipping.
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spelling A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyriaacute intermittent porphyriahydroxymethylbilane synthaseporphobilinogen deaminaseHMBS geneAcute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.3. We describe a novel mutation of the HMBS gene, a de novo 3-base deletion in the splicing donor site of intron 3 (IVS3+2_4delTGG) in a woman affected by AIP. RT-PCR analysis revealed an abnormal HMBS mRNA, compatible with exon 3 skipping.Sociedade Brasileira de Genética2007-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600003Genetics and Molecular Biology v.30 n.4 2007reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572007000600003info:eu-repo/semantics/openAccessRibeiro,Georgina SeveroMarchiori,Paulo EurípedesHirata,Mário HiroyukiRebecchi,IvaniseOzaki,Adriana NatsueNagai,Maria AparecidaSantos,Mariana Lopes dosOliveira,Raimundo Antonio GomesBarretto,Orlando Cesar de Oliveiraeng2007-12-13T00:00:00Zoai:scielo:S1415-47572007000600003Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2007-12-13T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria
title A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria
spellingShingle A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria
Ribeiro,Georgina Severo
acute intermittent porphyria
hydroxymethylbilane synthase
porphobilinogen deaminase
HMBS gene
title_short A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria
title_full A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria
title_fullStr A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria
title_full_unstemmed A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria
title_sort A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria
author Ribeiro,Georgina Severo
author_facet Ribeiro,Georgina Severo
Marchiori,Paulo Eurípedes
Hirata,Mário Hiroyuki
Rebecchi,Ivanise
Ozaki,Adriana Natsue
Nagai,Maria Aparecida
Santos,Mariana Lopes dos
Oliveira,Raimundo Antonio Gomes
Barretto,Orlando Cesar de Oliveira
author_role author
author2 Marchiori,Paulo Eurípedes
Hirata,Mário Hiroyuki
Rebecchi,Ivanise
Ozaki,Adriana Natsue
Nagai,Maria Aparecida
Santos,Mariana Lopes dos
Oliveira,Raimundo Antonio Gomes
Barretto,Orlando Cesar de Oliveira
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Ribeiro,Georgina Severo
Marchiori,Paulo Eurípedes
Hirata,Mário Hiroyuki
Rebecchi,Ivanise
Ozaki,Adriana Natsue
Nagai,Maria Aparecida
Santos,Mariana Lopes dos
Oliveira,Raimundo Antonio Gomes
Barretto,Orlando Cesar de Oliveira
dc.subject.por.fl_str_mv acute intermittent porphyria
hydroxymethylbilane synthase
porphobilinogen deaminase
HMBS gene
topic acute intermittent porphyria
hydroxymethylbilane synthase
porphobilinogen deaminase
HMBS gene
description Acute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.3. We describe a novel mutation of the HMBS gene, a de novo 3-base deletion in the splicing donor site of intron 3 (IVS3+2_4delTGG) in a woman affected by AIP. RT-PCR analysis revealed an abnormal HMBS mRNA, compatible with exon 3 skipping.
publishDate 2007
dc.date.none.fl_str_mv 2007-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600003
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600003
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572007000600003
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.30 n.4 2007
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
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