Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene

Detalhes bibliográficos
Autor(a) principal: Cury, G. K.
Data de Publicação: 2013
Outros Autores: Matte, U., Artigalás, Osvaldo, Alegra, T., Velho, R. V., Sperb, F., Acosta, Angelina Xavier
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://repositorio.ufba.br/ri/handle/ri/15549
Resumo: Texto completo: acesso restrito. p. 59–64
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spelling Cury, G. K.Matte, U.Artigalás, OsvaldoAlegra, T.Velho, R. V.Sperb, F.Acosta, Angelina XavierCury, G. K.Matte, U.Artigalás, OsvaldoAlegra, T.Velho, R. V.Sperb, F.Acosta, Angelina Xavier2014-08-11T19:07:38Z20130378-1119http://repositorio.ufba.br/ri/handle/ri/15549v. 524, n. 1Texto completo: acesso restrito. p. 59–64Mucolipidosis II and III (MLII and MLIII) alpha/beta are rare autosomal recessive lysosomal storage diseases (LSDs) caused by pathogenic variations in the GNPTAB gene. GNPTAB gene codes for the α and β subunits of phosphotransferase, the enzyme responsible for synthesis of the mannose-6-phosphate (M6P) marker that directs lysosomal enzymes to the lysosome. Objectives: The objective of this study is to identify sequence variations of the GNPTAB gene in Brazilian patients with MLII and MLIII alpha/beta. Method: Sequencing of the GNPTAB gene was performed in samples of gDNA extracted from the peripheral blood of patients with MLII/III diagnosed at a national reference center for LSDs. Results: Twelve unrelated patients, from several regions of Brazil, were included in this study. Only one was born of consanguineous parents. All patients were found to carry at least one nonpathogenic variation. Nine causal sequence variations were found: c.242G>T (p.W81L); c.1123C>T (p.R375X); c.1196C>T (p.S399F); c.1208T>C (p.I403T); c.1514G>A (p.C505Y); c.1759C>T (p.R587X); c.2808A>G (p.Y937_M972del, novel mutation); c. 2269_2273delGAAAC (p.E757KfsX2, novel mutation); and c.3503_3504delTC (p.L1168QfsX5). Both pathogenic variations were identified in 8 of 12 patients; in four patients, only one pathogenic variation was identified. Mutation c.3503_3504delTC, located in exon 19, was the most frequent pathogenic variation found (n = 11/24 alleles). The deleterious effect of the c.2808A>C mutation on splicing was confirmed by cDNA analysis. Discussion/conclusions: Our findings confirm that the GNPTAB gene presents broad allelic heterogeneity and suggests that, in Brazilian ML II and III patients, screening for mutations should begin at exon 19 of the GNPTAB gene. Further analyses will be conducted on patients in whom both pathogenic mutations have not been found in this study.Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2014-05-15T15:07:00Z No. of bitstreams: 1 1-s2.0-S0378111913003740-main.pdf: 742037 bytes, checksum: 2ed9c976f8da0546f888090180ab5ded (MD5)Approved for entry into archive by Patricia Barroso (pbarroso@ufba.br) on 2014-08-11T19:07:38Z (GMT) No. of bitstreams: 1 1-s2.0-S0378111913003740-main.pdf: 742037 bytes, checksum: 2ed9c976f8da0546f888090180ab5ded (MD5)Made available in DSpace on 2014-08-11T19:07:38Z (GMT). No. of bitstreams: 1 1-s2.0-S0378111913003740-main.pdf: 742037 bytes, checksum: 2ed9c976f8da0546f888090180ab5ded (MD5) Previous issue date: 2013http://dx.doi.org/10.1016/j.gene.2013.03.105reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBAGNPTABMucolipidosisLysosomal diseaseM6PI-cell diseasePseudo-Hurler polydystrophyMucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB geneGeneinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01info:eu-repo/semantics/openAccessengLICENSElicense.txtlicense.txttext/plain1345https://repositorio.ufba.br/bitstream/ri/15549/2/license.txt0d4b811ef71182510d2015daa7c8a900MD52ORIGINAL1-s2.0-S0378111913003740-main.pdf1-s2.0-S0378111913003740-main.pdfapplication/pdf742037https://repositorio.ufba.br/bitstream/ri/15549/1/1-s2.0-S0378111913003740-main.pdf2ed9c976f8da0546f888090180ab5dedMD51TEXT1-s2.0-S0378111913003740-main.pdf.txt1-s2.0-S0378111913003740-main.pdf.txtExtracted texttext/plain32875https://repositorio.ufba.br/bitstream/ri/15549/3/1-s2.0-S0378111913003740-main.pdf.txt7fe38f42e14eefe394d34f4dde5de831MD53ri/155492022-07-05 14:03:32.896oai:repositorio.ufba.br:ri/15549VGVybW8gZGUgTGljZW4/YSwgbj9vIGV4Y2x1c2l2bywgcGFyYSBvIGRlcD9zaXRvIG5vIFJlcG9zaXQ/cmlvIEluc3RpdHVjaW9uYWwgZGEgVUZCQS4KCiBQZWxvIHByb2Nlc3NvIGRlIHN1Ym1pc3M/byBkZSBkb2N1bWVudG9zLCBvIGF1dG9yIG91IHNldSByZXByZXNlbnRhbnRlIGxlZ2FsLCBhbyBhY2VpdGFyIAplc3NlIHRlcm1vIGRlIGxpY2VuP2EsIGNvbmNlZGUgYW8gUmVwb3NpdD9yaW8gSW5zdGl0dWNpb25hbCBkYSBVbml2ZXJzaWRhZGUgRmVkZXJhbCBkYSBCYWhpYSAKbyBkaXJlaXRvIGRlIG1hbnRlciB1bWEgYz9waWEgZW0gc2V1IHJlcG9zaXQ/cmlvIGNvbSBhIGZpbmFsaWRhZGUsIHByaW1laXJhLCBkZSBwcmVzZXJ2YT8/by4gCkVzc2VzIHRlcm1vcywgbj9vIGV4Y2x1c2l2b3MsIG1hbnQ/bSBvcyBkaXJlaXRvcyBkZSBhdXRvci9jb3B5cmlnaHQsIG1hcyBlbnRlbmRlIG8gZG9jdW1lbnRvIApjb21vIHBhcnRlIGRvIGFjZXJ2byBpbnRlbGVjdHVhbCBkZXNzYSBVbml2ZXJzaWRhZGUuCgogUGFyYSBvcyBkb2N1bWVudG9zIHB1YmxpY2Fkb3MgY29tIHJlcGFzc2UgZGUgZGlyZWl0b3MgZGUgZGlzdHJpYnVpPz9vLCBlc3NlIHRlcm1vIGRlIGxpY2VuP2EgCmVudGVuZGUgcXVlOgoKIE1hbnRlbmRvIG9zIGRpcmVpdG9zIGF1dG9yYWlzLCByZXBhc3NhZG9zIGEgdGVyY2Vpcm9zLCBlbSBjYXNvIGRlIHB1YmxpY2E/P2VzLCBvIHJlcG9zaXQ/cmlvCnBvZGUgcmVzdHJpbmdpciBvIGFjZXNzbyBhbyB0ZXh0byBpbnRlZ3JhbCwgbWFzIGxpYmVyYSBhcyBpbmZvcm1hPz9lcyBzb2JyZSBvIGRvY3VtZW50bwooTWV0YWRhZG9zIGVzY3JpdGl2b3MpLgoKIERlc3RhIGZvcm1hLCBhdGVuZGVuZG8gYW9zIGFuc2Vpb3MgZGVzc2EgdW5pdmVyc2lkYWRlIGVtIG1hbnRlciBzdWEgcHJvZHU/P28gY2llbnQ/ZmljYSBjb20gCmFzIHJlc3RyaT8/ZXMgaW1wb3N0YXMgcGVsb3MgZWRpdG9yZXMgZGUgcGVyaT9kaWNvcy4KCiBQYXJhIGFzIHB1YmxpY2E/P2VzIHNlbSBpbmljaWF0aXZhcyBxdWUgc2VndWVtIGEgcG9sP3RpY2EgZGUgQWNlc3NvIEFiZXJ0bywgb3MgZGVwP3NpdG9zIApjb21wdWxzP3Jpb3MgbmVzc2UgcmVwb3NpdD9yaW8gbWFudD9tIG9zIGRpcmVpdG9zIGF1dG9yYWlzLCBtYXMgbWFudD9tIGFjZXNzbyBpcnJlc3RyaXRvIAphbyBtZXRhZGFkb3MgZSB0ZXh0byBjb21wbGV0by4gQXNzaW0sIGEgYWNlaXRhPz9vIGRlc3NlIHRlcm1vIG4/byBuZWNlc3NpdGEgZGUgY29uc2VudGltZW50bwogcG9yIHBhcnRlIGRlIGF1dG9yZXMvZGV0ZW50b3JlcyBkb3MgZGlyZWl0b3MsIHBvciBlc3RhcmVtIGVtIGluaWNpYXRpdmFzIGRlIGFjZXNzbyBhYmVydG8uCg==Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:03:32Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene
dc.title.alternative.pt_BR.fl_str_mv Gene
title Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene
spellingShingle Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene
Cury, G. K.
GNPTAB
Mucolipidosis
Lysosomal disease
M6P
I-cell disease
Pseudo-Hurler polydystrophy
title_short Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene
title_full Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene
title_fullStr Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene
title_full_unstemmed Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene
title_sort Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene
author Cury, G. K.
author_facet Cury, G. K.
Matte, U.
Artigalás, Osvaldo
Alegra, T.
Velho, R. V.
Sperb, F.
Acosta, Angelina Xavier
author_role author
author2 Matte, U.
Artigalás, Osvaldo
Alegra, T.
Velho, R. V.
Sperb, F.
Acosta, Angelina Xavier
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Cury, G. K.
Matte, U.
Artigalás, Osvaldo
Alegra, T.
Velho, R. V.
Sperb, F.
Acosta, Angelina Xavier
Cury, G. K.
Matte, U.
Artigalás, Osvaldo
Alegra, T.
Velho, R. V.
Sperb, F.
Acosta, Angelina Xavier
dc.subject.por.fl_str_mv GNPTAB
Mucolipidosis
Lysosomal disease
M6P
I-cell disease
Pseudo-Hurler polydystrophy
topic GNPTAB
Mucolipidosis
Lysosomal disease
M6P
I-cell disease
Pseudo-Hurler polydystrophy
description Texto completo: acesso restrito. p. 59–64
publishDate 2013
dc.date.issued.fl_str_mv 2013
dc.date.accessioned.fl_str_mv 2014-08-11T19:07:38Z
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://repositorio.ufba.br/ri/handle/ri/15549
dc.identifier.issn.none.fl_str_mv 0378-1119
dc.identifier.number.pt_BR.fl_str_mv v. 524, n. 1
identifier_str_mv 0378-1119
v. 524, n. 1
url http://repositorio.ufba.br/ri/handle/ri/15549
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.source.pt_BR.fl_str_mv http://dx.doi.org/10.1016/j.gene.2013.03.105
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFBA
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