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Please use this identifier to cite or link to this item: http://hdl.handle.net/1843/55316
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dc.creatorNara de Oliveira Carvalhopt_BR
dc.creatorJosé Nélio Januáriopt_BR
dc.creatorGilsimary Lessa Pereira Felixpt_BR
dc.creatorDaniela Magalhães Nolascopt_BR
dc.creatorRoberto Vagner Puglia Ladeirapt_BR
dc.creatorDora Mendes Del Castillopt_BR
dc.creatorAna Lúcia Pimenta Starlingpt_BR
dc.creatorRocksane de Carvalho Nortonpt_BR
dc.creatorMarcos Borato Vianapt_BR
dc.date.accessioned2023-06-23T23:31:08Z-
dc.date.available2023-06-23T23:31:08Z-
dc.date.issued2019-11-13-
dc.citation.volume4pt_BR
dc.citation.spage096914131989229pt_BR
dc.identifier.doi10.1177/0969141319892298pt_BR
dc.identifier.issn09691413pt_BR
dc.identifier.urihttp://hdl.handle.net/1843/55316-
dc.description.resumoObjective: The prevalence of biotinidase deficiency and the frequency of biotinidase gene variants in Brazil are not docu mented. We aimed to determine the incidence of partial and profound biotinidase deficiency in the state of Minas Gerais, Brazil,and to calculate the frequency of biotinidase gene variants in the newborn screening program of Minas Gerais.Methods: Neonates (1,168,385) were screened from May 2013 to June 2018. Those detected with abnormal biotinidaseactivity based on semi-quantitative assays underwent confirmatory serum tests. The biotinidase gene was sequenced in allconfirmed cases.Results: The combined incidence of partial and profound biotinidase deficiency was estimated at 1:13,909 live births (95%confidence limit 1:11,235–1:17,217), much higher than the incidence rates reported in other populations worldwide. The mostfrequent biotinidase gene variants were p.D444H (allele frequency, 0.016), haplotype c.1330G>C;c.511G>A (p.D444H;A171T), p.D543E, c.310-15delT (intronic), p.V199M, and p.H485Q. Together these accounted for 74.6% of the alleles analysed.Conclusion: Newborn screening for biotinidase deficiency, which revealed a higher incidence in Minas Gerais, is feasible and plays a critical role in the early identification of affected neonates and prevention of symptoms and irreversible sequelae. Biotinidase gene sequencing is a useful tool to confirm the diagnosis, and also provides valuable information about genetic variability among different populationspt_BR
dc.format.mimetypepdfpt_BR
dc.languageengpt_BR
dc.publisherUniversidade Federal de Minas Geraispt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.departmentMEDICINA - FACULDADE DE MEDICINApt_BR
dc.publisher.initialsUFMGpt_BR
dc.relation.ispartofJournal of Medical Screening-
dc.rightsAcesso Abertopt_BR
dc.subjectBiotinidasept_BR
dc.subjectBiotinidase deficiencypt_BR
dc.subjectNewborn screeenigpt_BR
dc.subjectBiotinidase genept_BR
dc.subjectMutationpt_BR
dc.subject.otherBiotinidasept_BR
dc.subject.otherDeficiência de Biotinidasept_BR
dc.subject.otherMutaçãopt_BR
dc.subject.otherRecém nascidopt_BR
dc.titleFrequency of biotinidase gene variants and incidence of biotinidase deficiency in the newborn screening program in minas gerais, brazilpt_BR
dc.typeArtigo de Periódicopt_BR
dc.url.externahttps://journals.sagepub.com/doi/full/10.1177/0969141319892298pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-0912-3782pt_BR
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