Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders

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dc.contributor.authorButali, A.
dc.contributor.authorMossey, P.A.
dc.contributor.authorAdeyemo, W.L.
dc.contributor.authorJezewski, P.A.
dc.contributor.authorOnwuamah, C.K.
dc.contributor.authorOgunlewe, M.O.
dc.contributor.authorUgboko, V.I.
dc.contributor.authorAdejuyigbe, O.
dc.contributor.authorAdigun, A.I.
dc.contributor.authorAbdur-Rahman, L.O.
dc.contributor.authorOnah, I.I.
dc.contributor.authorAudu, R.A.
dc.contributor.authorIdigbe, E.O.
dc.contributor.authorMansilla, M.A.
dc.contributor.authorDragan, E.A.
dc.contributor.authorPetrin, A.L.
dc.contributor.authorBullard, S.A.
dc.contributor.authorUduezue, A.O.
dc.contributor.authorAkpata, O.
dc.contributor.authorOsaguona, A.O.
dc.contributor.authorOlasoji, H.O.
dc.contributor.authorLigali, T.O.
dc.contributor.authorKejeh, B.M.
dc.contributor.authorIseh, K.R.
dc.contributor.authorOlaitan, P.B.
dc.contributor.authorAdebola, A.R.
dc.contributor.authorEfunkoya, E.
dc.contributor.authorAdesina, O.A.
dc.contributor.authorOluwatosin, O.M.
dc.contributor.authorMurray, J.C.
dc.date.accessioned2019-10-30T10:25:52Z
dc.date.available2019-10-30T10:25:52Z
dc.date.issued2011-11-01
dc.descriptionStaff publicationsen_US
dc.description.abstractBACKGROUND: Orofacial clefts are the most common malformations of the head and neck, with a worldwide prevalence of 1 in 700 births. They are commonly divided into CL(P) and CP based on anatomic, genetic, and embryologic findings. A Nigerian craniofacial anomalies study (NigeriaCRAN) was set up in 2006 to investigate the role of gene-environment interaction in the origin of orofacial clefts in Nigeria. SUBJECTS AND METHODS: DNA isolated from saliva from Nigerian probands was used for genotype association studies and direct sequencing of cleft candidate genes: MSX1 , IRF6 , FOXE1, FGFR1 , FGFR2 , BMP4 , MAFB, ABCA4 , PAX7, and VAX1 , and the chromosome 8q region. RESULTS: A missense mutation A34G in MSX1 was observed in nine cases and four HapMap controls. No other apparent causative variations were identified. Deviation from Hardy Weinberg equilibrium (HWE) was observed in these cases (p = .00002). A significant difference was noted between the affected side for unilateral CL (p = .03) and bilateral clefts and between clefts on either side (p = .02). A significant gender difference was also observed for CP (p = .008). CONCLUSIONS: Replication of a mutation previously implicated in other populations suggests a role for the MSX1 A34G variant in the development of CL(P).en_US
dc.identifier.citationButali A, Mossey PA, Adeyemo WL, Jezewski PA, Onwuamah CK, Ogunlewe MO, Ugboko VI, Adejuyigbe O, Adigun AI, Abdur-Rahman LO, Onah II, Audu RA, Idigbe EO, Mansilla MA, Dragan EA, Petrin AL, Bullard SA, Uduezue AO, Akpata O, Osaguona AO, Olasoji HO, Ligali TO, Kejeh BM, Iseh KR, Olaitan PB, Adebola AR, Efunkoya E, Adesina OA, Oluwatosin OM, Murray JC; NigeriaCRAN Collaboration. Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders. Cleft Palate Craniofac J. 2011 Nov;48(6):646-53en_US
dc.identifier.urihttps://ir.unilag.edu.ng/handle/123456789/6608
dc.language.isoenen_US
dc.publisherSAGE JOURNALSen_US
dc.subjectMSX1 mutationen_US
dc.subjectNigerian populationen_US
dc.subjectOrofacial cleftsen_US
dc.subjectGenetic studyen_US
dc.subjectResearch Subject Categories::ODONTOLOGYen_US
dc.titleGenetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disordersen_US
dc.typeArticleen_US
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