ArticleMolecular syndromology2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
Article in Molecular syndromology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 29 citations in OpenAlex.
- Comprehensive analysis ofmedRxiv : the preprint server for health sciences · 2026Article
- 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
- Novel IRF6 mutations in Chinese Han families with Van der Woude syndrome.Molecular genetics & genomic medicine · 2020Article
- Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients.Genes · 2019Article
- The prevalence, penetrance, and expressivity of etiologicMolecular genetics & genomic medicine · 2017Article
- IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.Clinical genetics · 2016Article
- Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa.Molecular genetics & genomic medicine · 2014Article
- Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Article
- A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts.BMC medical genetics · 2013Article
- Interferon regulatory factor 6 promotes differentiation of the periderm by activating expression of Grainyhead-like 3.The Journal of investigative dermatology · 2013Article
- From the transcription of genes involved in ectodermal dysplasias to the understanding of associated dental anomalies.Molecular syndromology · 2012Article
- FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.American journal of human genetics · 2011Article
- The 19-bp deletion polymorphism of dihydrofolate reductase (DHFR) and nonsyndromic cleft lip with or without cleft palate: evidence for a protective role.Journal of applied oral science : revista FOBArticle
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Authors and funding
38 authors at 8 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Van der Woude syndrome (VWS), caused by dominant IRF6 mutation, is the most common cleft syndrome. In 15% of the patients, lip pits are absent and the phenotype mimics isolated clefts. Therefore, we hypothesized that some of the families classified as having non-syndromic inherited cleft lip and palate could have an IRF6 mutation. We screened in total 170 patients with cleft lip with or without cleft palate (CL/P): 75 were syndromic and 95 were a priori part of multiplex non-syndromic families. A mutation was identified in 62.7 and 3.3% of the patients, respectively. In one of the 95 a priori non-syndromic families with an autosomal dominant inheritance (family B), new insights into the family history revealed the presence, at birth, of lower lip pits in two members and the diagnosis was revised as VWS. A novel lower lip sign was observed in one individual in this family. Interestingly, a similar lower lip sign was also observed in one individual from a 2nd family (family A). This consists of 2 nodules below the lower lip on the external side. In a 3rd multiplex family (family C), a de novo mutation was identified in an a priori non-syndromic CL/P patient. Re-examination after mutation screening revealed the presence of a tiny pit-looking lesion on the inner side of the lower lip leading to a revised diagnosis of VWS. On the basis of this data, we conclude that IRF6 should be screened when any doubt rises about the normality of the lower lip and also if a non-syndromic cleft lip patient (with or without cleft palate) has a family history suggestive of autosomal dominant inheritance.
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