Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa.
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Molecular Genetics and Genomic Medicine
2024
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| author | Butali, Azeez Mossey, Peter A Adeyemo, Wasiu L Eshete, Mekonen A Gaines, LauRen A Even, Dee Braimah, Ramat O Aregbesola, Babatunde S Rigdon, Jennifer V Emeka, Christian I James, Olutayo Ogunlewe, Mobolanle O Ladeinde, Akinola L Abate, Fikre Hailu, Taye Mohammed, Ibrahim Gravem, Paul E Deribew, Milliard Gesses, Mulualem Adeyemo, Adebowale A Murray, Jeffrey C |
| author_facet | Butali, Azeez Mossey, Peter A Adeyemo, Wasiu L Eshete, Mekonen A Gaines, LauRen A Even, Dee Braimah, Ramat O Aregbesola, Babatunde S Rigdon, Jennifer V Emeka, Christian I James, Olutayo Ogunlewe, Mobolanle O Ladeinde, Akinola L Abate, Fikre Hailu, Taye Mohammed, Ibrahim Gravem, Paul E Deribew, Milliard Gesses, Mulualem Adeyemo, Adebowale A Murray, Jeffrey C |
| author_sort | Butali, Azeez |
| collection | DSpace |
| description | 7p |
| format | Article |
| id | oai:ir.oauife.edu.ng:123456789-6524 |
| institution | My University |
| language | English |
| publishDate | 2024 |
| publisher | Molecular Genetics and Genomic Medicine |
| record_format | dspace |
| spelling | oai:ir.oauife.edu.ng:123456789-65242024-06-14T03:00:23Z Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. Butali, Azeez Mossey, Peter A Adeyemo, Wasiu L Eshete, Mekonen A Gaines, LauRen A Even, Dee Braimah, Ramat O Aregbesola, Babatunde S Rigdon, Jennifer V Emeka, Christian I James, Olutayo Ogunlewe, Mobolanle O Ladeinde, Akinola L Abate, Fikre Hailu, Taye Mohammed, Ibrahim Gravem, Paul E Deribew, Milliard Gesses, Mulualem Adeyemo, Adebowale A Murray, Jeffrey C IRF6 Van der Woude syndrome popliteal pterygium syndrome sub-Saharan Africa 7p 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. 2024-06-13T09:01:44Z 2024-06-13T09:01:44Z 2014-05-01T00:00:00Z Article Butali, 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. 24936515 https://ir.oauife.edu.ng/handle/123456789/6524 en application/pdf Molecular Genetics and Genomic Medicine |
| spellingShingle | IRF6 Van der Woude syndrome popliteal pterygium syndrome sub-Saharan Africa Butali, Azeez Mossey, Peter A Adeyemo, Wasiu L Eshete, Mekonen A Gaines, LauRen A Even, Dee Braimah, Ramat O Aregbesola, Babatunde S Rigdon, Jennifer V Emeka, Christian I James, Olutayo Ogunlewe, Mobolanle O Ladeinde, Akinola L Abate, Fikre Hailu, Taye Mohammed, Ibrahim Gravem, Paul E Deribew, Milliard Gesses, Mulualem Adeyemo, Adebowale A Murray, Jeffrey C Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. |
| title | Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. |
| title_full | Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. |
| title_fullStr | Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. |
| title_full_unstemmed | Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. |
| title_short | Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. |
| title_sort | novel irf6 mutations in families with van der woude syndrome and popliteal pterygium syndrome from sub saharan africa |
| topic | IRF6 Van der Woude syndrome popliteal pterygium syndrome sub-Saharan Africa |
| url | https://ir.oauife.edu.ng/handle/123456789/6524 |
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