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

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dc.contributor.authorButali, Azeez
dc.contributor.authorMossey, Peter A
dc.contributor.authorAdeyemo, Wasiu L
dc.contributor.authorEshete, Mekonen A
dc.contributor.authorGaines, LauRen A
dc.contributor.authorEven, Dee
dc.contributor.authorBraimah, Ramat O
dc.contributor.authorAregbesola, Babatunde S
dc.contributor.authorRigdon, Jennifer V
dc.contributor.authorEmeka, Christian I
dc.contributor.authorJames, Olutayo
dc.contributor.authorOgunlewe, Mobolanle O
dc.contributor.authorLadeinde, Akinola L
dc.contributor.authorAbate, Fikre
dc.contributor.authorHailu, Taye
dc.contributor.authorMohammed, Ibrahim
dc.contributor.authorGravem, Paul E
dc.contributor.authorDeribew, Milliard
dc.contributor.authorGesses, Mulualem
dc.contributor.authorAdeyemo, Adebowale A
dc.contributor.authorMurray, Jeffrey C
dc.date.accessioned2024-06-13T09:01:44Z
dc.date.available2024-06-13T09:01:44Z
dc.date.issued2014-05-01T00:00:00Z
dc.description7p
dc.description.abstractOrofacial 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.
dc.identifier.citationButali, A., Mossey, P. A., Adeyemo, W. L., Eshete, M. A., Gaines, L. A., Even, D., ... & 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), 254-260.
dc.identifier.other24936515
dc.identifier.urihttps://ir.oauife.edu.ng/handle/123456789/6524
dc.language.isoen
dc.publisherMolecular Genetics and Genomic Medicine
dc.subjectIRF6
dc.subjectVan der Woude syndrome
dc.subjectpopliteal pterygium syndrome
dc.subjectsub-Saharan Africa
dc.titleNovel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa.
dc.typeArticle
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