Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-04

AUTHORS

Rosa Navarrete, Fátima Leal, Ana I. Vega, Ana Morais-López, María Teresa Garcia-Silva, Elena Martín-Hernández, Pilar Quijada-Fraile, Ana Bergua, Inmaculada Vives, Inmaculada García-Jiménez, Raquel Yahyaoui, Consuelo Pedrón-Giner, Amaya Belanger-Quintana, Sinziana Stanescu, Elvira Cañedo, Oscar García-Campos, María Bueno-Delgado, Carmen Delgado-Pecellín, Isidro Vitoria, María Dolores Rausell, Elena Balmaseda, Mari Luz Couce, Lourdes R. Desviat, Begoña Merinero, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez

ABSTRACT

The 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. More... »

PAGES

556-562

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41431-018-0330-0

    DOI

    http://dx.doi.org/10.1038/s41431-018-0330-0

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1111266780

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30626930


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