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

A BUTALI; P. A MOSSEY; R. A AUDU; M. A MANSILLA; E. A DRAGAN; A. L PETRIN; S. A BULLARD; A. O UDUEZUE; O AKPATA; A. O OSAGUONA; H. O OLASOJI; T. O LIGALI; W. L ADEYEMO; B. M KEJEH; K. R ISEH; P. B OLAITAN; A. R ADEBOLA; E EFUNKOYA; O. A ADESINA; O. M OLUWATOSIN; J. C MURRAY; P. A JEZEWSKI; C. K ONWUAMAH; V. I UGBOKO; O ADEJUYIGBE; A. I ADIGUN; L. O ABDUR-RAHMAN; I. I ONAH

doi:10.1597/10-133

Back

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

Journal article

Peer reviewed

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

A BUTALI, P. A MOSSEY, R. A AUDU, M. A MANSILLA, E. A DRAGAN, A. L PETRIN, S. A BULLARD, A. O UDUEZUE, O AKPATA, A. O OSAGUONA, …

The Cleft palate-craniofacial journal, Vol.48(6), pp.646-653

2011

DOI: 10.1597/10-133

PMCID: PMC3206991

PMID: 21740177

View Online

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).

Otorhinolaryngology. Stomatology

Biological and medical sciences

Medical sciences

Details

Title: Subtitle: Genetic Studies in the Nigerian Population Implicate an MSX1 Mutation in Complex Oral Facial Clefting Disorders
Creators: A BUTALI - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
P. A MOSSEY - Department of Orthodontics, Dundee Dental School and Hospital, University of Dundee, Dundee, United Kingdom
R. A AUDU - Department of Human Virology, Nigerian Institute for Medical Research, Lagos, Nigeria
M. A MANSILLA - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
E. A DRAGAN - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
A. L PETRIN - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
S. A BULLARD - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
A. O UDUEZUE - Department of Plastic Surgery, Ebonyi State University Teaching Hospital, Ebonyi, Nigeria
O AKPATA - Department of Oral and Maxillofacial Surgery, University of Benin Teaching Hospital, Benin, Nigeria
A. O OSAGUONA - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
H. O OLASOJI - Department of Oral and Maxillofacial Surgery, University of Maiduguri Teaching Hospital, Maiduguri, Nigeria
T. O LIGALI - Department of Oral and Maxillofacial Surgery, University of Maiduguri Teaching Hospital, Maiduguri, Nigeria
W. L ADEYEMO - Department of Oral and Maxillofacial Surgery, Lagos University Teaching Hospital, Lagos, Nigeria
B. M KEJEH - Department of Plastic Surgery, University of Port Harcourt Teaching Hospital, Port Harcourt, Nigeria
K. R ISEH - Department of Otolaryngology, Usumanu Dan Fodio University Teaching Hospital, Sokoto, Nigeria
P. B OLAITAN - Department of Plastic Surgery, Ladoke Akintola University Teaching Hospital, Oshogbo, Nigeria
A. R ADEBOLA - Department of Oral and Maxillofacial Surgery, Aminu Kano University Teaching Hospital, Kano, Nigeria
E EFUNKOYA - Department of Oral and Maxillofacial Surgery, Aminu Kano University Teaching Hospital, Kano, Nigeria
O. A ADESINA - Department of Oral and Maxillofacial Surgery, University of Maiduguri Teaching Hospital, Maiduguri, Nigeria
O. M OLUWATOSIN - Department of Plastic Surgery, University College Hospital, Ibadan, Nigeria
J. C MURRAY - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
P. A JEZEWSKI - Department of Cytokine Biology, Forsyth Institute, Harvard School of Dental Medicine, Boston, Massachusetts, United States
C. K ONWUAMAH - Department of Human Virology, Nigerian Institute for Medical Research, Lagos, Nigeria
V. I UGBOKO - Department of Oral and Maxillofacial Surgery, Obafemi Awolowo University Teaching Hospital, Ile-Ife, Nigeria
O ADEJUYIGBE - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
A. I ADIGUN - Department of Plastic Surgery, University of Ilorin Teaching Hospital, Ilorin, Nigeria
L. O ABDUR-RAHMAN - Department of Plastic Surgery, University of Ilorin Teaching Hospital, Ilorin, Nigeria
I. I ONAH - Department of Plastic Surgery, National Orthopedic Hospital, Enugu, Nigeria
Resource Type: Journal article
Publication Details: The Cleft palate-craniofacial journal, Vol.48(6), pp.646-653
DOI: 10.1597/10-133
PMID: 21740177
PMCID: PMC3206991
NLM abbreviation: Cleft Palate Craniofac J
ISSN: 1055-6656
eISSN: 1545-1569
Publisher: American Cleft Palate-Craniofacial Association; Chapel Hill, NC
Language: English
Date published: 2011
Academic Unit: Orthodontics; Oral Pathology, Radiology and Medicine; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research; Iowa Institute of Human Genetics
Record Identifier: 9984025312502771

Metrics

28 Record Views

34 Times Cited - Web of Science