Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

doi:10.1016/j.ajhg.2025.08.008

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Article

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

American journal of human genetics - 2 Oct 2025

Robinson Kelsey, Singh Sunil K, Walkup Rachel B, Fawwal Dorelle V, Vilfort Kendra M, Koloskee Amanda, Fashina Azeez, Adeyemo Wasiu Lanre, Beaty Terri H, Butali Azeez, Buxó Carmen J, Chung Wendy K, Cutler David J, Epstein Michael P, Gasser Brooklynn, Gowans Lord J J, Hecht Jacqueline T, Mankad Anuj, Moreno Uribe Lina, Scott Daryl A, Shaw Gary M, Thomas Mary Ann, Weinberg Seth M, Liao Eric C, Brand Harrison, Marazita Mary L, Lipinski Robert J, Murray Jeffrey C, Cornell Robert A, Leslie-Clarkson Elizabeth J

Abstract excerpt

Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of ∼1 in 35,000 live births, it is the most common form of syndromic clefting. Most VWS is attributed to variants in IRF6 (∼70%) or GRHL3 (∼5%), leaving up to 25% of individuals without a molecular diagnosis. Both IRF6 and GRHL3 function in a transcriptional regulatory...

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Identifiers

PMID: 40902599
DOI: 10.1016/j.ajhg.2025.08.008
PMCID: PMC12510259

Genes

PRKCI
GRHL3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.PMID 40902599Read ↗

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathySemantic proximity Read ↗

Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndromeSemantic proximity Read ↗

A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.Semantic proximity Read ↗

Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate.Semantic proximity Read ↗

IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.Semantic proximity Read ↗

Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan.Semantic proximity Read ↗

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.Semantic proximity Read ↗

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Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.Semantic proximity Read ↗

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