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dc.contributor.CRUESPUniversidade Estadual de Campinaspt_BR
dc.typeArtigo de periódicopt_BR
dc.titleH28+C insertion in the CYP21 gene: A novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiencypt_BR
dc.contributor.authorLau, IFpt_BR
dc.contributor.authorSoardi, FCpt_BR
dc.contributor.authorLemos-Marini, SHVpt_BR
dc.contributor.authorGuerra, Gpt_BR
dc.contributor.authorBaptista, MTMpt_BR
dc.contributor.authorDe Mello, MPpt_BR
unicamp.author.emailmmello@obelix.unicamp.brpt_BR
unicamp.authorUniv Estadual Campinas, Ctr Biol Mol & Engn Genet, BR-13083970 Campinas, SP, Brazil Univ Estadual Campinas, Dept Pediat, Ctr Invest Pediat, BR-13083970 Campinas, SP, Brazil Univ Estadual Campinas, Disciplina Endocrinol, Fac Ciencias Med, BR-13083970 Campinas, SP, Brazilpt_BR
dc.subject.wosCongenital Adrenal-hyperplasiapt_BR
dc.subject.wosHuman Steroid 21-hydroxylasept_BR
dc.subject.wosIdentificationpt_BR
dc.subject.wosPseudogenept_BR
dc.subject.wosFamiliespt_BR
dc.subject.wosP450c21pt_BR
dc.subject.wosAllelept_BR
dc.description.abstractIn the classical form of 21-hydroxylase deficiency, CYP21-affected genes either carry mutations present in the CYP21P pseudogene (microconversions) or bear a chimeric gene that replaces the active gene as a result of large conversion or deletion mutational events. Previous genotyping of 41 Brazilian patients revealed 64% microconversion, whereas deletions and large gene conversions accounted for up to 21% of the molecular defect. The present paper describes a new mutation disclosed by sequencing an entire gene in which no pseudogene-originated mutation had been found. The patient with the classical form of 21-hydroxylase deficiency is the daughter of a consanguineous marriage, and she is homozygous for a novel frameshift H28+C within exon 1. The mutation causes a stop codon at amino acid 78. Both parents are heterozygous for the mutation as confirmed by allele-specific oligonucleotide PCR. The H28+C is not present in the published CYP21P sequences and is likely to result in an enzyme with no activity.pt
dc.description.noteO TEXTO COMPLETO DESTE ARTIGO, ESTARÁ DISPONÍVEL À PARTIR DE FEVEREIRO DE 2015.pt
dc.relation.ispartofJournal Of Clinical Endocrinology & Metabolismpt_BR
dc.relation.ispartofabbreviationJ. Clin. Endocrinol. Metab.pt_BR
dc.publisher.cityChevy Chasept_BR
dc.publisher.countryEUApt_BR
dc.publisherEndocrine Socpt_BR
dc.date.issued2001pt_BR
dc.date.monthofcirculationDECpt_BR
dc.identifier.citationJournal Of Clinical Endocrinology & Metabolism. Endocrine Soc, v. 86, n. 12, n. 5877, n. 5880, 2001.pt_BR
dc.language.isoenpt_BR
dc.description.volume86pt_BR
dc.description.issuenumber12pt_BR
dc.description.firstpage5877pt_BR
dc.description.lastpage5880pt_BR
dc.rightsembargopt_BR
dc.sourceWeb of Sciencept_BR
dc.identifier.issn0021-972Xpt_BR
dc.identifier.wosidWOS:000172728200036pt_BR
dc.identifier.doi10.1210/jc.86.12.5877pt_BR
dc.date.available2014-11-15T14:03:49Z
dc.date.available2015-11-26T16:11:28Z-
dc.date.accessioned2014-11-15T14:03:49Z
dc.date.accessioned2015-11-26T16:11:28Z-
dc.description.provenanceMade available in DSpace on 2014-11-15T14:03:49Z (GMT). No. of bitstreams: 1 WOS000172728200036.pdf: 165596 bytes, checksum: 0084e7660777ab8dbdd05294f5be419d (MD5) Previous issue date: 2001en
dc.description.provenanceMade available in DSpace on 2015-11-26T16:11:28Z (GMT). No. of bitstreams: 2 WOS000172728200036.pdf: 165596 bytes, checksum: 0084e7660777ab8dbdd05294f5be419d (MD5) WOS000172728200036.pdf.txt: 23532 bytes, checksum: ae5e22c9d355a7d18504e0554204ee62 (MD5) Previous issue date: 2001en
dc.identifier.urihttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/79985pt_BR
dc.identifier.urihttp://www.repositorio.unicamp.br/handle/REPOSIP/79985
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/79985-
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