Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the newborn screening program in minas gerais, brazil

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dc.creatorNara de Oliveira Carvalho
dc.creatorJosé Nélio Januário
dc.creatorGilsimary Lessa Pereira Felix
dc.creatorDaniela Magalhães Nolasco
dc.creatorRoberto Vagner Puglia Ladeira
dc.creatorDora Mendes Del Castillo
dc.creatorAna Lúcia Pimenta Starling
dc.creatorRocksane de Carvalho Norton
dc.creatorMarcos Borato Viana
dc.date.accessioned2023-06-23T23:31:08Z
dc.date.accessioned2025-09-08T23:39:40Z
dc.date.available2023-06-23T23:31:08Z
dc.date.issued2019-11-13
dc.format.mimetypepdf
dc.identifier.doi10.1177/0969141319892298
dc.identifier.issn09691413
dc.identifier.urihttps://hdl.handle.net/1843/55316
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofJournal of Medical Screening
dc.rightsAcesso Aberto
dc.subjectBiotinidase
dc.subjectDeficiência de Biotinidase
dc.subjectMutação
dc.subjectRecém nascido
dc.subject.otherBiotinidase
dc.subject.otherBiotinidase deficiency
dc.subject.otherNewborn screeenig
dc.subject.otherBiotinidase gene
dc.subject.otherMutation
dc.titleFrequency of biotinidase gene variants and incidence of biotinidase deficiency in the newborn screening program in minas gerais, brazil
dc.typeArtigo de periódico
local.citation.spage096914131989229
local.citation.volume4
local.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 populations
local.identifier.orcidhttps://orcid.org/0000-0002-0912-3782
local.publisher.countryBrasil
local.publisher.departmentMEDICINA - FACULDADE DE MEDICINA
local.publisher.initialsUFMG
local.url.externahttps://journals.sagepub.com/doi/full/10.1177/0969141319892298

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