A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes

A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes

Van der Woude syndrome (VWS) is a genetic syndrome that leads to typical phenotypic traits, including lower lip pits and cleft lip/palate (CLP). The majority of VWS-affected patients harbor a pathogenic variant in the gene encoding for the transcription factor interferon regulatory factor 6 (IRF6),...

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Bibliographic Details
Main Authors: Martin Degen, Eleftheria Girousi, Julia Feldmann, Ludovica Parisi, Giorgio C. La Scala, Isabelle Schnyder, André Schaller, Christos Katsaros
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
Van der Woude syndrome
IRF6
cleft lip/palate
non-sense-mediated mRNA decay
haploinsuffiency
epidermal differentiation
Online Access:https://www.frontiersin.org/article/10.3389/fcell.2020.583115/full

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