ArticleGenetics in medicine : official journal of the American College of Medical Genetics2013
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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34 citing papers in PubMed, 61 citations in OpenAlex.
- Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants.Experimental dermatology · 2026Article
- Comprehensive analysis ofmedRxiv : the preprint server for health sciences · 2026Article
- A small-molecule screen identifies that elafibranor links mechanical cues and Irf6-dependent epithelial differentiation.Disease models & mechanisms · 2026Article
- Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.American journal of human genetics · 2025Article
- DNA Methylation Effects on Van der Woude Syndrome Phenotypic Variability.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2025Article
- A novelFrontiers in genetics · 2024Article
- Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.Molecular genetics & genomic medicine · 2023Article
- Article
- A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the GenesInternational journal of molecular sciences · 2023Article
- DNA methylation differences in monozygotic twins with Van der Woude syndrome.Frontiers in dental medicine · 2023Article
- Negative regulation of interferon regulatory factor 6 (IRF6) in interferon and NF-κB signalling pathways of common carp (Cyprinus carpio L.).BMC veterinary research · 2022Article
- Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.Molecular genetics & genomic medicine · 2020Review
- Novel IRF6 mutations in Chinese Han families with Van der Woude syndrome.Molecular genetics & genomic medicine · 2020Article
- SPECC1L regulates palate development downstream of IRF6.Human molecular genetics · 2020Article
- The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.Human molecular genetics · 2019Article
- Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate.Journal of dental research · 2017Article
- Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.PLoS genetics · 2017Article
- Shared molecular networks in orofacial and neural tube development.Birth defects research · 2017Article
- Genetics and genomics etiology of nonsyndromic orofacial clefts.Molecular genetics & genomic medicine · 2017Article
- Dissection of the complex genetic basis of craniofacial anomalies using haploid genetics and interspecies hybrids in Nasonia wasps.Developmental biology · 2016Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
purposeMutations in the transcription factor IRF6 cause allelic autosomal dominant clefting syndromes, Van der Woude syndrome, and popliteal pterygium syndrome. We compared the distribution of IRF6 coding and splice-site mutations from 549 families with Van der Woude syndrome or popliteal pterygium syndrome with that of variants from the 1000 Genomes and National Heart, Lung, and Blood Institute Exome Sequencing Projects.
methodsWe compiled all published pathogenic IRF6 mutations and performed direct sequencing of IRF6 in families with Van der Woude syndrome or popliteal pterygium syndrome.
resultsAlthough mutations causing Van der Woude syndrome or popliteal pterygium syndrome were nonrandomly distributed with significantly increased frequencies in the DNA-binding domain (P = 0.0001), variants found in controls were rare and evenly distributed in IRF6. Of 194 different missense or nonsense variants described as potentially pathogenic, we identified only two in more than 6,000 controls. PolyPhen and SIFT (sorting intolerant from tolerant) reported 5.9% of missense mutations in patients as benign, suggesting that use of current in silico prediction models to determine function can have significant false negatives.
conclusionMutation of IRF6 occurs infrequently in controls, suggesting that for IRF6 there is a high probability that disruption of the coding sequence, particularly the DNA-binding domain, will result in syndromic features. Prior associations of coding sequence variants in IRF6 with clefting syndromes have had few false positives.
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