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Butali A, Mossey PA, Adeyemo WL, et al. Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. Mol Genet Genomic Med. 2014;2(3):254-60doi: 10.1002/mgg3.66.
Butali, A., Mossey, P. A., Adeyemo, W. L., Eshete, M. A., Gaines, L. A., Even, D., Braimah, R. O., Aregbesola, B. S., Rigdon, J. V., Emeka, C. I., James, O., Ogunlewe, M. O., Ladeinde, A. L., Abate, F., Hailu, T., Mohammed, I., Gravem, P. E., Deribew, M., Gesses, M., Adeyemo, A. A., & Murray, J. C. (2014). Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. Molecular genetics & genomic medicine, 2(3), 254-60. https://doi.org/10.1002/mgg3.66
Butali, Azeez, et al. "Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa." Molecular genetics & genomic medicine vol. 2,3 (2014): 254-60. doi: https://doi.org/10.1002/mgg3.66
Butali A, Mossey PA, Adeyemo WL, Eshete MA, Gaines LA, Even D, Braimah RO, Aregbesola BS, Rigdon JV, Emeka CI, James O, Ogunlewe MO, Ladeinde AL, Abate F, Hailu T, Mohammed I, Gravem PE, Deribew M, Gesses M, Adeyemo AA, Murray JC. Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. Mol Genet Genomic Med. 2014 May;2(3):254-60. doi: 10.1002/mgg3.66. Epub 2014 Jan 27. PMID: 24936515; PMCID: PMC4049366.
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Mol Genet Genomic Med. 2014 May;2(3):254-60. doi: 10.1002/mgg3.66. Epub 2014 Jan 27.

Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa.

Molecular genetics & genomic medicine

Azeez Butali, Peter A Mossey, Wasiu L Adeyemo, Mekonen A Eshete, LauRen A Gaines, Dee Even, Ramat O Braimah, Babatunde S Aregbesola, Jennifer V Rigdon, Christian I Emeka, Olutayo James, Mobolanle O Ogunlewe, Akinola L Ladeinde, Fikre Abate, Taye Hailu, Ibrahim Mohammed, Paul E Gravem, Milliard Deribew, Mulualem Gesses, Adebowale A Adeyemo, Jeffrey C Murray

Affiliations

  1. Department of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa Iowa City, Iowa.
  2. Department of Orthodontics, University of Dundee Dundee, Scotland.
  3. College of Medicine, University of Lagos Lagos, Nigeria.
  4. Addis Ababa University Addis Ababa, Ethiopia.
  5. Obafemi Awolowo University Ile-Ife, Nigeria.
  6. Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health Bethesda, Maryland.

PMID: 24936515 PMCID: PMC4049366 DOI: 10.1002/mgg3.66

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.

Keywords: IRF6; Van der Woude syndrome; popliteal pterygium syndrome; sub-Saharan Africa

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