Sistema de Salut de Catalunya
Relator, Raissa
Mul, Adri N.
Alders, Marielle
Levy, Michael A.
CEA ARESTIN, CRISTINA
van der Laan, Liselot
Valenzuela, Irene
Cueto-González, Anna Mª
Lasa-Aranzasti, Amaia
TIZZANO, EDUARDO F.
Institut Català de la Salut
[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
Vall d'Hebron Barcelona Hospital Campus
2025-11-21T10:16:22Z
2025-11-21T10:16:22Z
2025-12
DNA methylation; Episignature; Fetal alcohol spectrum disorder
Metilació de l'ADN; Episignatura; Trastorn de l'espectre alcohòlic fetal
Metilación del ADN; Episignatura; Trastorno del espectro alcohólico fetal
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.
Funding for this study is provided in part by the Government of Canada through Genome Canada and the Ontario Genomics Institute (OGI-188).
English
ADN - Metilació; Marcadors bioquímics; Trastorns de l'espectre alcohòlic fetal - Diagnòstic; DISEASES::Female Urogenital Diseases and Pregnancy Complications::Pregnancy Complications::Fetal Diseases::Fetal Alcohol Spectrum Disorders; Other subheadings::Other subheadings::/diagnosis; CHEMICALS AND DRUGS::Biological Factors::Biomarkers; PHENOMENA AND PROCESSES::Chemical Phenomena::Biochemical Phenomena::Alkylation::Methylation::DNA Methylation; ENFERMEDADES::enfermedades de los genitales femeninos y complicaciones del embarazo::complicaciones del embarazo::enfermedades fetales::trastornos del espectro alcohólico fetal; Otros calificadores::Otros calificadores::/diagnóstico; COMPUESTOS QUÍMICOS Y DROGAS::factores biológicos::biomarcadores; FENÓMENOS Y PROCESOS::fenómenos químicos::fenómenos bioquímicos::alquilación::metilación::metilación del ADN
Elsevier
Genetics in Medicine;27(12)
https://doi.org/10.1016/j.gim.2025.101586
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
Articles científics - HVH [3375]
Articles científics - VHIR [1654]
