ArticleAmerican journal of medical genetics. Part A2013
Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.
Article in American journal of medical genetics. Part A, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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.
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Who cites it
19 citing papers in PubMed, 26 citations in OpenAlex.
- Genetic and Molecular Basis of Cleft Lip and Palate: A Comprehensive Review.Diagnostics (Basel, Switzerland) · 2026Review
- 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
- Congenital Maxillomandibular Synechia with Multiple Malformations in a Very-Low-Birth-Weight Infant: A Case Report.AJP reports · 2023Article
- Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome.Diagnostics (Basel, Switzerland) · 2021Article
- Lack of IRF6 Disrupts Human Epithelial Homeostasis by Altering Colony Morphology, Migration Pattern, and Differentiation Potential of Keratinocytes.Frontiers in cell and developmental biology · 2021Article
- AnDevelopment (Cambridge, England) · 2020Article
- A clinical and multi‑omics study of Van der Woude syndrome in three generations of a Chinese family.Molecular medicine reports · 2020Article
- A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals.Genetic epidemiology · 2019Article
- Surgical, Speech, and Audiologic Outcomes in Patients With Orofacial Cleft and Van der Woude Syndrome.The Journal of craniofacial surgery · 2019Article
- [Clinical and genetic features of Chinese kindreds with Van der Woude syndrome caused by interferon regulatory factor 6 mutation].Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2018Article
- Review
- The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.Journal of dental research · 2017Article
- Sonic hedgehog regulation ofDevelopment (Cambridge, England) · 2017Article
- The prevalence, penetrance, and expressivity of etiologicMolecular genetics & genomic medicine · 2017Article
- Toward an orofacial gene regulatory network.Developmental dynamics : an official publication of the American Association of Anatomists · 2016Review
- Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.American journal of medical genetics. Part A · 2015Article
- Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report.Journal of medical case reports · 2014Article
- Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis.Plastic and reconstructive surgery · 2014Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
Van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for 1-2% of all patients with cleft lip and/or cleft palate. Van der Woude and popliteal pterygium syndromes are caused by mutations in IRF6, but phenotypic variability within and among families with either syndrome suggests that other genetic factors contribute to the phenotypes. The aim of this study was to identify common variants acting as genetic modifiers of IRF6 as well as genotype-phenotype correlations based on mutation type and location. We identified an association between mutations in the DNA-binding domain of IRF6 and limb defects (including pterygia). Although we did not detect formally significant associations with the genes tested, borderline associations suggest several genes that could modify the VWS phenotype, including FOXE1, TGFB3, and TFAP2A. Some of these genes are hypothesized to be part of the IRF6 gene regulatory network and may suggest additional genes for future study when larger sample sizes are also available. We also show that families with the Van de Woude phenotype but in whom no mutations have been identified have a lower frequency of cleft lip, suggesting there may be locus and/or mutation class differences in Van de Woude syndrome.
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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.