ArticleClinical genetics2016
IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.
Article in Clinical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
31 citing papers in PubMed, 54 citations in OpenAlex.
- Trial
- The role of Rho GTPases in facial morphogenesis.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Review
- The orofacial cleft risk gene IRF6 is a target gene of SOX9 in cranial neural crest cells.Journal of molecular medicine (Berlin, Germany) · 2026Article
- Comprehensive analysis ofmedRxiv : the preprint server for health sciences · 2026Article
- plmmr: an R package to fit penalized linear mixed models for genome-wide association data with complex correlation structure.Briefings in bioinformatics · 2026Article
- Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.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
- Neural crest and periderm-specific requirements of Irf6 during neural tube and craniofacial development.Developmental biology · 2025Review
- Neural crest and periderm-specific requirements ofbioRxiv : the preprint server for biology · 2024Article
- Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.Molecular genetics & genomic medicine · 2023Article
- A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the GenesInternational journal of molecular sciences · 2023Article
- Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.International journal of molecular sciences · 2022Review
- Clinical Practice Guidelines on the Treatment of Patients with Cleft Lip, Alveolus, and Palate: An Executive Summary.Journal of clinical medicine · 2021Article
- Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes.Clinical oral investigations · 2021Observational
- Rare Diseases of the Oral Cavity, Neck, and Pharynx.Laryngo- rhino- otologie · 2021Review
- Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.American journal of human genetics · 2020Article
- SPECC1L regulates palate development downstream of IRF6.Human molecular genetics · 2020Article
- Functional Characterization of a Novel IRF6 Frameshift Mutation From a Van Der Woude Syndrome Family.Frontiers in genetics · 2020Article
- Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients.Genes · 2019Article
Corrections and comments
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Authors and funding
15 authors at 10 institutions in 4 countries.
Funding
Abstract
Van der Woude syndrome (VWS) is an autosomal dominant malformation syndrome characterized by orofacial clefting (OFC) and lower lip pits. The clinical presentation of VWS is variable and can present as an isolated OFC, making it difficult to distinguish VWS cases from individuals with non-syndromic OFCs. About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs. Screening for IRF6 mutations in apparently non-syndromic cases has been performed in several modestly sized cohorts with mixed results. In this study, we screened 1521 trios with presumed non-syndromic OFCs to determine the frequency of causal IRF6 mutations. We identified seven likely causal IRF6 mutations, although a posteriori review identified two misdiagnosed VWS families based on the presence of lip pits. We found no evidence for association between rare IRF6 polymorphisms and non-syndromic OFCs. We combined our results with other similar studies (totaling 2472 families) and conclude that causal IRF6 mutations are found in 0.24-0.44% of apparently non-syndromic OFC families. We suggest that clinical mutation screening for IRF6 be considered for certain family patterns such as families with mixed types of OFCs and/or autosomal dominant transmission.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.