Genetic Studies in the Nigerian Population Implicate an MSX1 Mutation in Complex Oral Facial Clefting Disorders

被引：35

作者：

Butali, A. ^{[1
]}

Mossey, P. A. ^{[1
]}

Orth, M. ^{[1
]}

Adeyemo, W. L. ^{[1
]}

Jezewski, P. A. ^{[1
]}

Onwuamah, C. K. ^{[1
]}

Oguniewe, M. O. ^{[1
]}

Ugboko, V. I. ^{[1
]}

Adejuyigbe, O. ^{[1
]}

Adigun, A. I. ^{[1
]}

Abdur-Rahman, L. O. ^{[1
]}

Onah, I. I. ^{[1
]}

Audu, R. A. ^{[1
]}

Idigbe, E. O. ^{[1
]}

Mansilla, M. A. ^{[1
]}

Dragan, E. A. ^{[1
]}

Petrin, A. L. ^{[1
]}

Bullard, S. A. ^{[1
]}

Uduezue, A. O. ^{[1
]}

Akpata, O. ^{[1
]}

Osaguona, A. O. ^{[1
]}

Olasoji, H. O. ^{[1
]}

Ligali, T. O. ^{[1
]}

Kejeh, B. M. ^{[1
]}

Iseh, K. R. ^{[1
]}

Olaitan, P. B. ^{[1
]}

Adebola, A. R. ^{[1
]}

Efunkoya, E. ^{[1
]}

Adesina, O. A. ^{[1
]}

Oluwatosin, O. M. ^{[1
]}

Murray, J. C. ^{[1
]}

机构：

[1] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA

来源：

CLEFT PALATE-CRANIOFACIAL JOURNAL | 2011年 / 48卷 / 06期

关键词：

A34G; MSX1; Nigeria; orofacial clefts; GENOME-WIDE ASSOCIATION; MISSENSE MUTATION; VARIANTS CONTRIBUTE; OROFACIAL CLEFTS; LIP; PALATE; HOMEODOMAIN; FAMILY; LOCUS; RISK;

D O I：

10.1597/10-133

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

摘要：

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).

引用

页码：646 / 653

页数：8

共 49 条

[1] Bilateral Transverse Facial Cleft as an Isolated Deformity: Case Report [J].

Akinmoladun, V. I. ;

Owotade, F. J. ;

Afolabi, A. O. .

ANNALS OF AFRICAN MEDICINE, 2007, 6 (01) :39-40

[2]

[Anonymous], 2001, Global Strategy for Infant and Young Child Feeding, P1

[3] PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations [J].

Avila, Joseph R. ;

Jezewski, Peter A. ;

Vieira, Alexandre R. ;

Orioli, Ieda M. ;

Castilla, Eduardo E. ;

Christensen, Kaare ;

Daack-Hirsch, Sandra ;

Romitti, Paul A. ;

Murray, Jeffrey C. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (23) :2562-2570

[4] A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 [J].

Beaty, Terri H. ;

Murray, Jeffrey C. ;

Marazita, Mary L. ;

Munger, Ronald G. ;

Ruczinski, Ingo ;

Hetmanski, Jacqueline B. ;

Liang, Kung Yee ;

Wu, Tao ;

Murray, Tanda ;

Fallin, M. Daniele ;

Redett, Richard A. ;

Raymond, Gerald ;

Schwender, Holger ;

Jin, Sheng-Chih ;

Cooper, Margaret E. ;

Dunnwald, Martine ;

Mansilla, Maria A. ;

Leslie, Elizabeth ;

Bullard, Stephen ;

Lidral, Andrew C. ;

Moreno, Lina M. ;

Menezes, Renato ;

Vieira, Alexandre R. ;

Petrin, Aline ;

Wilcox, Allen J. ;

Lie, Rolv T. ;

Jabs, Ethylin W. ;

Wu-Chou, Yah Huei ;

Chen, Philip K. ;

Wang, Hong ;

Ye, Xiaoqian ;

Huang, Shangzhi ;

Yeow, Vincent ;

Chong, Samuel S. ;

Jee, Sun Ha ;

Shi, Bing ;

Christensen, Kaare ;

Melbye, Mads ;

Doheny, Kimberly F. ;

Pugh, Elizabeth W. ;

Ling, Hua ;

Castilla, Eduardo E. ;

Czeizel, Andrew E. ;

Ma, Lian ;

Field, L. Leigh ;

Brody, Lawrence ;

Pangilinan, Faith ;

Mills, James L. ;

Molloy, Anne M. ;

Kirke, Peadar N. .

NATURE GENETICS, 2010, 42 (06) :525-U76

[5] Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 [J].

Birnbaum, Stefanie ;

Ludwig, Kerstin U. ;

Reutter, Heiko ;

Herms, Stefan ;

Steffens, Michael ;

Rubini, Michele ;

Baluardo, Carlotta ;

Ferrian, Melissa ;

de Assis, Nilma Almeida ;

Alblas, Margrieta A. ;

Barth, Sandra ;

Freudenberg, Jan ;

Lauster, Carola ;

Schmidt, Guel ;

Scheer, Martin ;

Braumann, Bert ;

Berge, Stefaan J. ;

Reich, Rudolf H. ;

Schiefke, Franziska ;

Hemprich, Alexander ;

Poetzsch, Simone ;

Steegers-Theunissen, Regine P. ;

Poetzsch, Bernd ;

Moebus, Susanne ;

Horsthemke, Bernhard ;

Kramer, Franz-Josef ;

Wienker, Thomas F. ;

Mossey, Peter A. ;

Propping, Peter ;

Cichon, Sven ;

Hoffmann, Per ;

Knapp, Michael ;

Noethen, Markus M. ;

Mangold, Elisabeth .

NATURE GENETICS, 2009, 41 (04) :473-477

[6]

Butali A, 2009, PAN AFR MED J, V2, P1

[7]

CATRON KM, 1995, MOL CELL BIOL, V15, P861

[8] A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families [J].

Chishti, Muhammad S. ;

Muhammad, Dost ;

Haider, Mahmud ;

Ahmad, Wasim .

JOURNAL OF HUMAN GENETICS, 2006, 51 (10) :872-878

[9] A novel MSX1 mutation in hypodontia [J].

De Muynck, S ;

Schollen, E ;

Matthijs, G ;

Verdonck, A ;

Devriendt, K ;

Carels, C .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 128A (04) :401-403

[10] Domain duplication, divergence, and loss events in vertebrate Msx paralogs reveal phylogenomically informed disease markers [J].

Finnerty, John R. ;

Mazza, Maureen E. ;

Jezewski, Peter A. .

BMC EVOLUTIONARY BIOLOGY, 2009, 9

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