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dc.contributor.authorAmartino, Hernán.
dc.contributor.authorKauffman, Marcelo.
dc.contributor.authorCohen, Cohen.
dc.contributor.authorEt al.
dc.date.accessioned2024-01-29T15:55:10Z
dc.date.available2024-01-29T15:55:10Z
dc.date.issued2020-01
dc.identifier.citationAnn Hum Genet . 2020 Jan;84(1):11-28.es
dc.identifier.issn1469-1809
dc.identifier.urihttps://riu.austral.edu.ar/handle/123456789/2675
dc.descriptionDisponible en: https://onlinelibrary.wiley.com/doi/epdf/10.1111/ahg.12345es
dc.description.abstractAbstract Introduction and objectives: Leukodystrophies and genetic leukoencephalopathies constitute a vast group of pathologies of the cerebral white matter. The large number of etiopathogenic genes and the frequent unspecificity on the clinical-radiological presentation generate remarkable difficulties in the diagnosis approach. Despite recent and significant developments, molecular diagnostic yield is still less than 50%. Our objective was to develop and explore the usefulness of a new diagnostic procedure using standardized molecular diagnostic tools, and next-generation sequencing techniques. Materials and methods: A prospective, observational, analytical study was conducted in a cohort of 46 patients, evaluated between May 2008 and December 2016, with a suspected genetic leukoencephalopathy or leukodystrophy. A diagnostic procedure was set up using classical monogenic tools in patients with characteristic phenotypes, and next-generation techniques in nonspecific ones. Results: Global diagnostic procedure yield was 57.9%, identifying the etiological pathogenesis in 22 of the 38 studied subjects. Analysis by subgroups, Sanger method, and next-generation sequencing showed a yield of 64%, and 46.1% respectively. The most common pathologies were adrenoleukodystrophy, cerebral autosomal-dominant arteriopathy with subcortical infarcts (CADASIL), and vanishing white matter disease. Conclusions: Our results confirm the usefulness of the proposed diagnostic procedure expressed in a high diagnostic yield and suggest a more optimal cost-effectiveness in an etiological analysis phase. Keywords: diagnostic procedure; genetic leukoencephalopathies; leukodystrophies; next-generation sequencing. © 2019 John Wiley & Sons Ltd/University College London. PubMed Disclaimeres
dc.language.isoenes
dc.publisherWileyes
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectDiagnostic procedurees
dc.subjectGenetic leukoencephalopathieses
dc.subjectLeukodystrophieses
dc.titleArgentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 yearses
dc.typeArticlees


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Attribution-NonCommercial-NoDerivatives 4.0 Internacional
Except where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivatives 4.0 Internacional