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

A. Butali, P.A. Mossey, W.L. Adeyemo, P.A. Jezewski, C.K. Onwuamah, M.O. Ogunlewe, V.I. Ugboko, O. Adejuyigbe, A.I. Adigun, L.O. Abdur-Rahman, I.I. Onah, R.A. Audu, E.O. Idigbe, M.A. Mansilla, E.A. Dragan, A.L. Petrin, S.A. Bullard, A.O. Uduezue, O. Akpata, A.O. Osaguona & 10 others H.O. Olasoji, T.O. Ligali, B.M. Kejeh, K.R. Iseh, P.B. Olaitan, A.R. Adebola, E. Efunkoya, O.A. Adesina, O.M. Oluwatosin, J.C. Murray

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    24 Citations (Scopus)

    Abstract

    Background: 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).
    Original languageEnglish
    Pages (from-to)646-653
    Number of pages8
    JournalCleft Palate-Craniofacial Journal
    Volume48
    Issue number6
    DOIs
    Publication statusPublished - 2011

    Fingerprint

    HapMap Project
    Gene-Environment Interaction
    Missense Mutation
    Nigeria
    Saliva
    Neck
    Chromosomes
    Head
    Genotype
    Parturition
    Mutation
    DNA
    Population
    Genes

    Cite this

    Butali, A. ; Mossey, P.A. ; Adeyemo, W.L. ; Jezewski, P.A. ; Onwuamah, C.K. ; Ogunlewe, M.O. ; Ugboko, V.I. ; Adejuyigbe, O. ; Adigun, A.I. ; Abdur-Rahman, L.O. ; Onah, I.I. ; Audu, R.A. ; Idigbe, E.O. ; Mansilla, M.A. ; Dragan, E.A. ; Petrin, A.L. ; Bullard, S.A. ; Uduezue, A.O. ; Akpata, O. ; Osaguona, A.O. ; Olasoji, H.O. ; Ligali, T.O. ; Kejeh, B.M. ; Iseh, K.R. ; Olaitan, P.B. ; Adebola, A.R. ; Efunkoya, E. ; Adesina, O.A. ; Oluwatosin, O.M. ; Murray, J.C. / Genetic studies in the nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders. In: Cleft Palate-Craniofacial Journal. 2011 ; Vol. 48, No. 6. pp. 646-653.
    @article{7a92e4d0a79643a585027a22aaf2716c,
    title = "Genetic studies in the nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders",
    abstract = "Background: 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).",
    author = "A. Butali and P.A. Mossey and W.L. Adeyemo and P.A. Jezewski and C.K. Onwuamah and M.O. Ogunlewe and V.I. Ugboko and O. Adejuyigbe and A.I. Adigun and L.O. Abdur-Rahman and I.I. Onah and R.A. Audu and E.O. Idigbe and M.A. Mansilla and E.A. Dragan and A.L. Petrin and S.A. Bullard and A.O. Uduezue and O. Akpata and A.O. Osaguona and H.O. Olasoji and T.O. Ligali and B.M. Kejeh and K.R. Iseh and P.B. Olaitan and A.R. Adebola and E. Efunkoya and O.A. Adesina and O.M. Oluwatosin and J.C. Murray",
    note = "Copyright 2011 Elsevier B.V., All rights reserved.",
    year = "2011",
    doi = "10.1597/10-133",
    language = "English",
    volume = "48",
    pages = "646--653",
    journal = "Cleft Palate-Craniofacial Journal",
    issn = "1055-6656",
    publisher = "American Cleft Palate-Craniofacial Association",
    number = "6",

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    Butali, 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 2011, 'Genetic studies in the nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders', Cleft Palate-Craniofacial Journal, vol. 48, no. 6, pp. 646-653. https://doi.org/10.1597/10-133

    Genetic studies in the nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders. / Butali, A.; Mossey, P.A.; Adeyemo, W.L.; Jezewski, P.A.; Onwuamah, C.K.; Ogunlewe, M.O.; Ugboko, V.I.; Adejuyigbe, O.; Adigun, A.I.; Abdur-Rahman, L.O.; Onah, I.I.; Audu, R.A.; Idigbe, E.O.; Mansilla, M.A.; Dragan, E.A.; Petrin, A.L.; Bullard, S.A.; Uduezue, A.O.; Akpata, O.; Osaguona, A.O.; Olasoji, H.O.; Ligali, T.O.; Kejeh, B.M.; Iseh, K.R.; Olaitan, P.B.; Adebola, A.R.; Efunkoya, E.; Adesina, O.A.; Oluwatosin, O.M.; Murray, J.C.

    In: Cleft Palate-Craniofacial Journal, Vol. 48, No. 6, 2011, p. 646-653.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - Genetic studies in the nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders

    AU - Butali, A.

    AU - Mossey, P.A.

    AU - Adeyemo, W.L.

    AU - Jezewski, P.A.

    AU - Onwuamah, C.K.

    AU - Ogunlewe, M.O.

    AU - Ugboko, V.I.

    AU - Adejuyigbe, O.

    AU - Adigun, A.I.

    AU - Abdur-Rahman, L.O.

    AU - Onah, I.I.

    AU - Audu, R.A.

    AU - Idigbe, E.O.

    AU - Mansilla, M.A.

    AU - Dragan, E.A.

    AU - Petrin, A.L.

    AU - Bullard, S.A.

    AU - Uduezue, A.O.

    AU - Akpata, O.

    AU - Osaguona, A.O.

    AU - Olasoji, H.O.

    AU - Ligali, T.O.

    AU - Kejeh, B.M.

    AU - Iseh, K.R.

    AU - Olaitan, P.B.

    AU - Adebola, A.R.

    AU - Efunkoya, E.

    AU - Adesina, O.A.

    AU - Oluwatosin, O.M.

    AU - Murray, J.C.

    N1 - Copyright 2011 Elsevier B.V., All rights reserved.

    PY - 2011

    Y1 - 2011

    N2 - Background: 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).

    AB - Background: 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).

    UR - http://www.scopus.com/inward/record.url?scp=80655144881&partnerID=8YFLogxK

    U2 - 10.1597/10-133

    DO - 10.1597/10-133

    M3 - Article

    VL - 48

    SP - 646

    EP - 653

    JO - Cleft Palate-Craniofacial Journal

    JF - Cleft Palate-Craniofacial Journal

    SN - 1055-6656

    IS - 6

    ER -