ArticleMolecular genetics & genomic medicine2014
Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa.
Article in Molecular genetics & genomic medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 29 citations in OpenAlex.
- Whole exome sequencing uncovers genetic syndromes and putative candidate genes underlying orofacial clefts presenting with limb abnormalities in a Sub-Saharan African cohort.BMC medical genomics · 2026Article
- Comprehensive analysis ofmedRxiv : the preprint server for health sciences · 2026Article
- Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort.Research square · 2025Article
- Loss of the epithelial transcription factor grhl3 leads to variably penetrant developmental phenotypes in zebrafish.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- Popliteal Pterygium Syndrome: A Case Report Highlighting Challenges and Surgical Interventions in a Resource-limited Setting.Plastic and reconstructive surgery. Global open · 2024Article
- Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives.Bone reports · 2024Review
- Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.Molecular genetics & genomic medicine · 2023Article
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- Surgical Correction of Popliteal Pterygium with Serial Splinting: A Case Report and Review of Literature.Plastic and reconstructive surgery. Global open · 2021Article
- 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
- The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function.Nature · 2019Article
- [Genetic analysis of a family of Van der Woude syndrome].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2019Article
- Prospects of genetic testing for steroid-resistant nephrotic syndrome in Nigerian children: a narrative review of challenges and opportunities.International journal of nephrology and renovascular disease · 2019Review
- Medical genetics and genomic medicine in Nigeria.Molecular genetics & genomic medicine · 2018Article
- Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2018Article
- Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.Journal of dental research · 2018Article
- The prevalence, penetrance, and expressivity of etiologicMolecular genetics & genomic medicine · 2017Article
- Genetics and genomics etiology of nonsyndromic orofacial clefts.Molecular genetics & genomic medicine · 2017Article
Corrections and comments
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Authors and funding
21 authors at 6 institutions in 4 countries.
Funding
Abstract
Orofacial clefts (OFC) are complex genetic traits that are often classified as syndromic or nonsyndromic clefts. Currently, there are over 500 types of syndromic clefts in the Online Mendelian Inheritance in Man (OMIM) database, of which Van der Woude syndrome (VWS) is one of the most common (accounting for 2% of all OFC). Popliteal pterygium syndrome (PPS) is considered to be a more severe form of VWS. Mutations in the IRF6 gene have been reported worldwide to cause VWS and PPS. Here, we report studies of families with VWS and PPS in sub-Saharan Africa. We screened the DNA of eight families with VWS and one family with PPS from Nigeria and Ethiopia by Sanger sequencing of the most commonly affected exons in IRF6 (exons 3, 4, 7, and 9). For the VWS families, we found a novel nonsense variant in exon 4 (p.Lys66X), a novel splice-site variant in exon 4 (p.Pro126Pro), a novel missense variant in exon 4 (p.Phe230Leu), a previously reported splice-site variant in exon 7 that changes the acceptor splice site, and a known missense variant in exon 7 (p.Leu251Pro). A previously known missense variant was found in exon 4 (p.Arg84His) in the PPS family. All the mutations segregate in the families. Our data confirm the presence of IRF6-related VWS and PPS in sub-Saharan Africa and highlights the importance of screening for novel mutations in known genes when studying diverse global populations. This is important for counseling and prenatal diagnosis for high-risk families.
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