Jan Maarten Cobben1, Izabela M Krzyzewska2, Andrea Venema2, Adri N Mul2, Abeltje Polstra2, Alex V Postma2,3, Robert Smigiel4, Karolina Pesz5, Jacek Niklinski6, Monika A Chomczyk6, Peter Henneman3, Marcel Mam Mannens3. 1. Department of Pediatrics, Amsterdam University Medical Centers, Location AMC, Emma Children's Hospital, Amsterdam, The Netherlands. 2. Department of Clinical Genetics, Genome Diagnostics Laboratory, Amsterdam University Medical Centers, Location AMC, Amsterdam, The Netherlands. 3. Department of Anatomy, Embryology & Physiology, Amsterdam University Medical Centers, Location AMC, Amsterdam, The Netherlands. 4. Department of Pediatrics & Rare Disorders, Medical University of Wroclaw, Poland. 5. Department of Genetics, Medical University of Wroclaw, Poland. 6. Department of Molecular Biology, Medical University of Bialystok, Poland.
Abstract
Aim: Fetal alcohol spectrum disorder (FASD) involves prenatal growth delay, impaired facial and CNS development and causes severe clinical, social-economic burdens. Here, we aim to detect DNA-methylation aberrations associated with FASD and potential FASD diagnostic and prognostic biomarkers. Patients & methods: The FASD diagnosis was established according to golden-standard protocols in a discovery and independent replication cohort. Genome-wide differential methylation association and replication analyses were performed. Results: We identified several loci that were robustly associated with FASD or one of its sub phenotypes. Our findings were evaluated using previously reported genome-wide surveys. Conclusion: We have detected robust FASD associated differentially methylated positions and differentially methylated regions for FASD in general and for FASD subphenotypes, in other words on growth delay, impaired facial and CNS development.
Aim: Fetal alcohol spectrum disorder (FASD) involves prenatal growth delay, impaired facial and CNS development and causes severe clinical, social-economic burdens. Here, we aim to detect DNA-methylation aberrations associated with FASD and potential FASD diagnostic and prognostic biomarkers. Patients & methods: The FASD diagnosis was established according to golden-standard protocols in a discovery and independent replication cohort. Genome-wide differential methylation association and replication analyses were performed. Results: We identified several loci that were robustly associated with FASD or one of its sub phenotypes. Our findings were evaluated using previously reported genome-wide surveys. Conclusion: We have detected robust FASD associated differentially methylated positions and differentially methylated regions for FASD in general and for FASD subphenotypes, in other words on growth delay, impaired facial and CNS development.
Authors: Saskia B Wortmann; Machteld M Oud; Mariëlle Alders; Karlien L M Coene; Saskia N van der Crabben; René G Feichtinger; Alejandro Garanto; Alex Hoischen; Mirjam Langeveld; Dirk Lefeber; Johannes A Mayr; Charlotte W Ockeloen; Holger Prokisch; Richard Rodenburg; Hans R Waterham; Ron A Wevers; Bart P C van de Warrenburg; Michel A A P Willemsen; Nicole I Wolf; Lisenka E L M Vissers; Clara D M van Karnebeek Journal: J Inherit Metab Dis Date: 2022-05-22 Impact factor: 4.750
Authors: Safdar Jawaid; James P Strainic; Jun Kim; Matthew R Ford; Lars Thrane; Ganga H Karunamuni; Megan M Sheehan; Amrin Chowdhury; Caitlyn A Gillespie; Andrew M Rollins; Michael W Jenkins; Michiko Watanabe; Stephanie M Ford Journal: Alcohol Clin Exp Res Date: 2021-01-02 Impact factor: 3.455