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dc.contributor.authorNavarrete, R.
dc.contributor.authorLeal, F.
dc.contributor.authorVega, A. I.
dc.contributor.authorMorais-López, A.
dc.contributor.authorGarcia-Silva, M. T.
dc.contributor.authorMartín-Hernández, E.
dc.contributor.authorQuijada-Fraile, P.
dc.contributor.authorBergua, A.
dc.contributor.authorVives, I.
dc.contributor.authorGarcía-Jiménez, I.
dc.contributor.authorYahyaoui, R.
dc.contributor.authorPedrón-Giner, C.
dc.contributor.authorBelanger-Quintana, A.
dc.contributor.authorStanescu, S.
dc.contributor.authorCañedo, E.
dc.contributor.authorGarcía-Campos, O.
dc.contributor.authorBueno-Delgado, M.
dc.contributor.authorDelgado-Pecellín, C.
dc.contributor.authorVitoria, I.
dc.contributor.authorRausell, M. D.
dc.contributor.authorBalmaseda, E.
dc.contributor.authorCouce Pico, María Luz 
dc.contributor.authorDesviat, L. R.
dc.contributor.authorMerinero, B.
dc.contributor.authorRodríguez-Pombo, P.
dc.contributor.authorUgarte, M.
dc.contributor.authorPérez-Cerdá, C.
dc.contributor.authorPérez, B.
dc.date.accessioned2021-10-14T09:18:42Z
dc.date.available2021-10-14T09:18:42Z
dc.date.issued2019
dc.identifier.issn1018-4813
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/30626930
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460639/pdf/41431_2018_Article_330.pdf
dc.identifier.urihttp://hdl.handle.net/20.500.11940/15523
dc.description.abstractThe present work describes the value of genetic analysis as a confirmatory measure following the detection of suspected inborn errors of metabolism in the Spanish newborn mass spectrometry screening program. One hundred and forty-one consecutive DNA samples were analyzed by next-generation sequencing using a customized exome sequencing panel. When required, the Illumina extended clinical exome panel was used, as was Sanger sequencing or transcriptional profiling. Biochemical tests were used to confirm the results of the genetic analysis. Using the customized panel, the metabolic disease suspected in 83 newborns (59%) was confirmed. In three further cases, two monoallelic variants were detected for two genes involved in the same biochemical pathway. In the remainder, either a single variant or no variant was identified. Given the persistent absence of biochemical alterations, carrier status was assigned in 39 cases. False positives were recorded for 11. In five cases in which the biochemical pattern was persistently altered, further genetic analysis allowed the detection of two variants affecting the function of BCAT2, ACSF3, and DNAJC12, as well as a second, deep intronic variant in ETFDH or PTS. The present results suggest that genetic analysis using extended next-generation sequencing panels can be used as a confirmatory test for suspected inborn errors of metabolism detected in newborn screening programs. Biochemical tests can be very helpful when a diagnosis is unclear. In summary, simultaneous genomic and metabolomic analyses can increase the number of inborn errors of metabolism that can be confirmed following suggestive newborn screening results.
dc.titleValue of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program
dc.typeArtigoes
dc.authorsophosCouce Pico, María Luz
dc.identifier.doi10.1038/s41431-018-0330-0
dc.identifier.pmid30626930
dc.identifier.sophos30885
dc.issue.number4
dc.journal.titleEUROPEAN JOURNAL OF HUMAN GENETICS
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago de Compostela - Complexo Hospitalario Universitario de Santiago de Compostela::Neonatoloxía
dc.page.initial556es
dc.page.final562es
dc.subject.keywordCHUS
dc.typefidesArtículo Científico (incluye Original, Original breve, Revisión Sistemática y Meta-análisis)
dc.typesophosArtículo Original
dc.volume.number27


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