dc.contributor
Institut Català de la Salut
dc.contributor
[van der Laan L, Mul AN, Alders M] Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands. Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands. [Relator R, Levy MA] Verspeeten Clinical Genome Centre, London Health Science Centre, London, Canada. [Valenzuela I, Cueto-González AM, Lasa-Aranzasti A, Cea-Arestin C, Tizzano EF] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Relator, Raissa
dc.contributor.author
Mul, Adri N.
dc.contributor.author
Alders, Marielle
dc.contributor.author
Levy, Michael A.
dc.contributor.author
CEA ARESTIN, CRISTINA
dc.contributor.author
van der Laan, Liselot
dc.contributor.author
Valenzuela, Irene
dc.contributor.author
Cueto-González, Anna Mª
dc.contributor.author
Lasa-Aranzasti, Amaia
dc.contributor.author
TIZZANO, EDUARDO F.
dc.date.accessioned
2025-11-23T06:43:51Z
dc.date.available
2025-11-23T06:43:51Z
dc.date.issued
2025-11-21T10:16:22Z
dc.date.issued
2025-11-21T10:16:22Z
dc.identifier
van der Laan L, Relator R, Valenzuela I, Mul AN, Alders M, Levy MA, et al. Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome. Genet Med. 2025 Dec;27(12):101586.
dc.identifier
http://hdl.handle.net/11351/14084
dc.identifier
10.1016/j.gim.2025.101586
dc.identifier
001605164800002
dc.identifier.uri
http://hdl.handle.net/11351/14084
dc.description.abstract
DNA methylation; Episignature; Fetal alcohol spectrum disorder
dc.description.abstract
Metilació de l'ADN; Episignatura; Trastorn de l'espectre alcohòlic fetal
dc.description.abstract
Metilación del ADN; Episignatura; Trastorno del espectro alcohólico fetal
dc.description.abstract
Purpose
Fetal alcohol spectrum disorder (FASD) encompasses a range of clinical features and neurodevelopmental disorders in children exposed to alcohol in utero. Despite its global public health significance, FASD diagnosis remains challenging because of nonspecific clinical findings and the lack of an accurate molecular diagnostic biomarker. This study aimed to evaluate peripheral blood DNA methylation (DNAm) profiles as a potential diagnostic biomarker for fetal alcohol syndrome.
Methods
Genomic DNAm profiles from 93 individuals with suspected or confirmed FAS, including a clinically diagnosed FAS subgroup, were analyzed and compared with a large database of control and patient cohorts with previously reported DNAm episignatures. Functional analysis of these DNAm profiles was performed to identify episignatures and assess their potential diagnostic utility.
Results
A relatively sensitive and specific DNAm episignature for FAS was identified. Comparative epigenomic analysis revealed functional correlations between FAS and other rare genetic disorders, supporting the robustness of the identified DNAm profiles as a diagnostic tool.
Conclusion
This study demonstrates that unique DNAm profiles provide a robust episignature biomarker for FAS. These findings contribute to the molecular understanding of FAS and hold promise for improving diagnostic accuracy for this complex disorder.
dc.description.abstract
Funding for this study is provided in part by the Government of Canada through Genome Canada and the Ontario Genomics Institute (OGI-188).
dc.format
application/pdf
dc.relation
Genetics in Medicine;27(12)
dc.relation
https://doi.org/10.1016/j.gim.2025.101586
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
ADN - Metilació
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Marcadors bioquímics
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Trastorns de l'espectre alcohòlic fetal - Diagnòstic
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DISEASES::Female Urogenital Diseases and Pregnancy Complications::Pregnancy Complications::Fetal Diseases::Fetal Alcohol Spectrum Disorders
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Other subheadings::Other subheadings::/diagnosis
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CHEMICALS AND DRUGS::Biological Factors::Biomarkers
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PHENOMENA AND PROCESSES::Chemical Phenomena::Biochemical Phenomena::Alkylation::Methylation::DNA Methylation
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ENFERMEDADES::enfermedades de los genitales femeninos y complicaciones del embarazo::complicaciones del embarazo::enfermedades fetales::trastornos del espectro alcohólico fetal
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Otros calificadores::Otros calificadores::/diagnóstico
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COMPUESTOS QUÍMICOS Y DROGAS::factores biológicos::biomarcadores
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FENÓMENOS Y PROCESOS::fenómenos químicos::fenómenos bioquímicos::alquilación::metilación::metilación del ADN
dc.title
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
