Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal

Detalhes bibliográficos
Autor(a) principal: Ventura, F.V.
Data de Publicação: 2013
Outros Autores: Leandro, P., Luz, A., Rivera, I.A., Silva, M.F., Ramos, R., Rocha, H., Lopes, A., Fonseca, H., Gaspar, A., Diogo, L., Martins, E., Leão-Teles, E., Vilarinho, L., Tavares de Almeida, I.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/2144
Resumo: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the commonest genetic defect of mitochondrial fatty acid β-oxidation. About 60% of MCADD patients are homozygous for the c.985A>G (p.Lys329Glu) mutation in the ACADM gene (G985 allele). Herein, we present the first report on the molecular and biochemical spectrum of Portuguese MCADD population. From the 109 patients studied, 83 were diagnosed after inclusion of MCADD in the national newborn screening, 8 following the onset of symptoms and 18 through segregation studies. Gypsy ancestry was identified in 85/109 patients. The G985 allele was found in homozygosity in 102/109 patients, in compound heterozygosity in 6/109 and was absent in one patient. Segregation studies in the Gypsy families showed that 93/123 relatives were carriers of the G985 allele, suggesting its high prevalence in this ethnic group. Additionally, three new substitutions-c.218A>G (p.Tyr73Cys), c.503A>T (p.Asp168Val) and c.1205G>T (p.Gly402Val)-were identified. Despite the particularity of the MCADD population investigated, the G985 allele was found in linkage disequilibrium with H1(112) haplotype. Furthermore, two novel haplotypes, H5(212) and H6(122) were revealed.
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spelling Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in PortugalACADMMCADDInborn Errors of MetabolismMitochondrial Fatty Acid β-oxidation DisordersNewborn ScreeningDoenças GenéticasMedium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the commonest genetic defect of mitochondrial fatty acid β-oxidation. About 60% of MCADD patients are homozygous for the c.985A>G (p.Lys329Glu) mutation in the ACADM gene (G985 allele). Herein, we present the first report on the molecular and biochemical spectrum of Portuguese MCADD population. From the 109 patients studied, 83 were diagnosed after inclusion of MCADD in the national newborn screening, 8 following the onset of symptoms and 18 through segregation studies. Gypsy ancestry was identified in 85/109 patients. The G985 allele was found in homozygosity in 102/109 patients, in compound heterozygosity in 6/109 and was absent in one patient. Segregation studies in the Gypsy families showed that 93/123 relatives were carriers of the G985 allele, suggesting its high prevalence in this ethnic group. Additionally, three new substitutions-c.218A>G (p.Tyr73Cys), c.503A>T (p.Asp168Val) and c.1205G>T (p.Gly402Val)-were identified. Despite the particularity of the MCADD population investigated, the G985 allele was found in linkage disequilibrium with H1(112) haplotype. Furthermore, two novel haplotypes, H5(212) and H6(122) were revealed.John Wiley & SonsRepositório Científico do Instituto Nacional de SaúdeVentura, F.V.Leandro, P.Luz, A.Rivera, I.A.Silva, M.F.Ramos, R.Rocha, H.Lopes, A.Fonseca, H.Gaspar, A.Diogo, L.Martins, E.Leão-Teles, E.Vilarinho, L.Tavares de Almeida, I.2014-03-17T12:11:30Z2013-07-062013-07-06T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/2144engClin Genet. 2014 Jun;85(6):555-61. doi: 10.1111/cge.12227. Epub 2013 Jul 280009-9163doi: 10.1111/cge.12227info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:39:07Zoai:repositorio.insa.pt:10400.18/2144Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:37:12.288571Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal
title Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal
spellingShingle Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal
Ventura, F.V.
ACADM
MCADD
Inborn Errors of Metabolism
Mitochondrial Fatty Acid β-oxidation Disorders
Newborn Screening
Doenças Genéticas
title_short Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal
title_full Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal
title_fullStr Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal
title_full_unstemmed Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal
title_sort Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal
author Ventura, F.V.
author_facet Ventura, F.V.
Leandro, P.
Luz, A.
Rivera, I.A.
Silva, M.F.
Ramos, R.
Rocha, H.
Lopes, A.
Fonseca, H.
Gaspar, A.
Diogo, L.
Martins, E.
Leão-Teles, E.
Vilarinho, L.
Tavares de Almeida, I.
author_role author
author2 Leandro, P.
Luz, A.
Rivera, I.A.
Silva, M.F.
Ramos, R.
Rocha, H.
Lopes, A.
Fonseca, H.
Gaspar, A.
Diogo, L.
Martins, E.
Leão-Teles, E.
Vilarinho, L.
Tavares de Almeida, I.
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Ventura, F.V.
Leandro, P.
Luz, A.
Rivera, I.A.
Silva, M.F.
Ramos, R.
Rocha, H.
Lopes, A.
Fonseca, H.
Gaspar, A.
Diogo, L.
Martins, E.
Leão-Teles, E.
Vilarinho, L.
Tavares de Almeida, I.
dc.subject.por.fl_str_mv ACADM
MCADD
Inborn Errors of Metabolism
Mitochondrial Fatty Acid β-oxidation Disorders
Newborn Screening
Doenças Genéticas
topic ACADM
MCADD
Inborn Errors of Metabolism
Mitochondrial Fatty Acid β-oxidation Disorders
Newborn Screening
Doenças Genéticas
description Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the commonest genetic defect of mitochondrial fatty acid β-oxidation. About 60% of MCADD patients are homozygous for the c.985A>G (p.Lys329Glu) mutation in the ACADM gene (G985 allele). Herein, we present the first report on the molecular and biochemical spectrum of Portuguese MCADD population. From the 109 patients studied, 83 were diagnosed after inclusion of MCADD in the national newborn screening, 8 following the onset of symptoms and 18 through segregation studies. Gypsy ancestry was identified in 85/109 patients. The G985 allele was found in homozygosity in 102/109 patients, in compound heterozygosity in 6/109 and was absent in one patient. Segregation studies in the Gypsy families showed that 93/123 relatives were carriers of the G985 allele, suggesting its high prevalence in this ethnic group. Additionally, three new substitutions-c.218A>G (p.Tyr73Cys), c.503A>T (p.Asp168Val) and c.1205G>T (p.Gly402Val)-were identified. Despite the particularity of the MCADD population investigated, the G985 allele was found in linkage disequilibrium with H1(112) haplotype. Furthermore, two novel haplotypes, H5(212) and H6(122) were revealed.
publishDate 2013
dc.date.none.fl_str_mv 2013-07-06
2013-07-06T00:00:00Z
2014-03-17T12:11:30Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/2144
url http://hdl.handle.net/10400.18/2144
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Clin Genet. 2014 Jun;85(6):555-61. doi: 10.1111/cge.12227. Epub 2013 Jul 28
0009-9163
doi: 10.1111/cge.12227
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv embargoedAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv John Wiley & Sons
publisher.none.fl_str_mv John Wiley & Sons
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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