Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years.
Adolescent
Adult
Aged
Argentina
Biomarkers
/ analysis
Child
Child, Preschool
Female
Follow-Up Studies
Genomics
/ methods
High-Throughput Nucleotide Sequencing
Humans
Infant
Infant, Newborn
Leukodystrophy, Metachromatic
/ classification
Leukoencephalopathies
/ classification
Male
Middle Aged
Prognosis
Prospective Studies
Young Adult
diagnostic procedure
genetic leukoencephalopathies
leukodystrophies
next-generation sequencing
Journal
Annals of human genetics
ISSN: 1469-1809
Titre abrégé: Ann Hum Genet
Pays: England
ID NLM: 0416661
Informations de publication
Date de publication:
01 2020
01 2020
Historique:
received:
26
12
2018
revised:
27
02
2019
accepted:
18
07
2019
pubmed:
17
8
2019
medline:
4
2
2021
entrez:
17
8
2019
Statut:
ppublish
Résumé
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. 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. 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. 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.
Substances chimiques
Biomarkers
0
Types de publication
Journal Article
Observational Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
11-28Subventions
Organisme : "Lautaro te Necesita" Foundation
Pays : International
Organisme : Ministry of Science and Technology of Argentina
Pays : International
Organisme : Fund for Scientific and Technological Research
Pays : International
Informations de copyright
© 2019 John Wiley & Sons Ltd/University College London.
Références
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