半面阳光 (2025-09-29 19:19):
#paper DOI: https://doi.org/10.1038/s41431-025-01919-5. european journal of human genetics. 2025. Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders. 本研究评估了DNA甲基化（DNAm）特征作为染色质调控基因变异所致发育障碍诊断工具的临床实用性。研究人员对2019年2月至2023年6月期间接受商业化EpisignTM平台DNAm特征检测的298名患者进行了回顾性分析。该队列包含75例针对既往遗传学发现的靶向分析，以及223例经前期诊断检测仍未明确的完整分析病例。结果显示，在表型匹配的DNAm特征阳性病例中，81.8%（9/11）通过回顾性分析识别出致病DNA变异或独立确诊了先前未识别的印记异常，为这些分子确诊病例提供了宝贵的诊断线索。该发现强调DNAm特征在临床实践中作为变异解读与诊断的补充方法具有重要价值。
European Journal of Human Genetics, 2025-10. DOI: 10.1038/s41431-025-01919-5
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders
Daphne J. Smits, Christophe Debuy, Alice S. Brooks, Rachel Schot, Federico Ferraro, Dmitrijs Rots, Arjan Bouman, Virginie J. M. Verhoeven, Laura Donker Kaat, Sarina G. Kant, ... >>>
Daphne J. Smits, Christophe Debuy, Alice S. Brooks, Rachel Schot, Federico Ferraro, Dmitrijs Rots, Arjan Bouman, Virginie J. M. Verhoeven, Laura Donker Kaat, Sarina G. Kant, Yolande van Bever, Serwet Demirdas, Shimriet Zeidler, Marieke F. van Dooren, Stephany H. Donze, Lies H. Hoefsloot, Marjon A. van Slegtenhorst, Martina Wilke, Frank Sleutels, Mark Drost, Hennie T. Brüggenwirth, Rick van Minkelen, Anne Goverde, Janna A. Hol, Ingrid M. B. H. van de Laar, Yvette van Ierland, Anneke Kievit, Vyne van der Schoot, Kyra E. Stuurman, Grazia M. S. Mancini, Marja W. Wessels, Tjakko J. van Ham, Tjitske Kleefstra, Tahsin Stefan Barakat <<<
Related Links:
回到顶部