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Related Experiment Video

Updated: Jun 17, 2025

Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors

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Published on: August 5, 2022

DNA Methylation Effects on Van der Woude Syndrome Phenotypic Variability.

Amanda Seaberg¹, Waheed Awotoye¹, Fang Qian¹

¹College of Dentistry and Dental Clinics, University of Iowa, Iowa City, IA, USA.

The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association

|August 7, 2024

Summary

Epigenetic modifications in IRF6 and TP63 genes influence Van der Woude Syndrome (VWS) presentation. DNA methylation patterns in these genes correlate with specific cleft types and severity, explaining VWS phenotypic variability.

Keywords:

DNA methylation Van der Woude syndrome cleft lip and palate epigenetics lip pits phenotypic variability

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Published on: February 24, 2015

Area of Science:

Genetics and Epigenetics
Developmental Biology
Craniofacial Anomalies Research

Background:

Van der Woude Syndrome (VWS) is characterized by lip pits (LP) and cleft lip/palate (CL/P, CPO).
Phenotypic variability in VWS suggests a role for epigenetic factors.
IRF6 and TP63 genes are crucial for palatogenesis and interact in a regulatory loop.

Purpose of the Study:

To investigate the hypothesis that differential DNA methylation in IRF6 and TP63 regulatory regions contributes to VWS phenotypic discordance.
To analyze methylation patterns in relation to cleft type and phenotypic severity.

Main Methods:

DNA methylation analysis of CpG sites in IRF6 and TP63 promoters and an IRF6 enhancer.
Samples from 78 unrelated VWS cases (blood and saliva) were analyzed.
Analyses stratified by sex, sample type, cleft type (CL/P±LP vs. CPO±LP), and severity (cleft+LP vs. cleft only).

Main Results:

Blood samples showed sex-specific differences in IRF6 and TP63 promoter methylation related to cleft type.
Saliva samples revealed differential IRF6 enhancer and TP63 promoter methylation associated with cleft type.
Saliva samples indicated higher IRF6 promoter methylation in individuals with lip pits compared to those without.

Conclusions:

Differential DNA methylation in IRF6 and TP63 regulatory regions is associated with cleft type and phenotypic severity in VWS.
Epigenetic modifications in these key genes contribute to the observed phenotypic heterogeneity in Van der Woude Syndrome.