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Updated: Jul 11, 2025
06:07
Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors
Published on: August 5, 2022
2.6K
DNA methylation effects on Van der Woude Syndrome phenotypic variability
Medrxiv : the Preprint Server for Health Sciences
|November 14, 2023
Summary
Epigenetic changes in the IRF6 gene promoter are linked to Van der Woude Syndrome severity. Hypermethylation correlates with more severe phenotypes, including orofacial clefts and lip pits.
Area of Science:
- Genetics
- Epigenetics
- Developmental Biology
Background:
- Van der Woude Syndrome (VWS) exhibits variable expressivity, even in families with identical mutations.
- Epigenetic modifications, specifically DNA methylation, are investigated as potential modifiers of VWS phenotypes.
- The IRF6 and TP63 genes play crucial roles in palatogenesis and are implicated in VWS.
Conclusions:
- Hypermethylation of the IRF6 promoter is associated with more severe VWS phenotypes, including orofacial clefts and lip pits.
- This epigenetic modification may exacerbate the effects of underlying genetic mutations in IRF6, contributing to phenotypic severity.
- DNA methylation in IRF6 regulatory regions represents a potential mechanism influencing the phenotypic spectrum of Van der Woude Syndrome.
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