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.
  
  
  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).
authors: A
authors: A
authors: Butali
authors: P A
authors: PA
authors: Mossey
authors: W L
authors: WL
authors: Adeyemo
authors: P A
authors: PA
authors: Jezewski
authors: C K
authors: CK
authors: Onwuamah
authors: M O
authors: MO
authors: Ogunlewe
authors: V I
authors: VI
authors: Ugboko
authors: O
authors: O
authors: Adejuyigbe
authors: A I
authors: AI
authors: Adigun
authors: L O
authors: LO
authors: Abdur-Rahman
authors: I I
authors: II
authors: Onah
authors: R A
authors: RA
authors: Audu
authors: E O
authors: EO
authors: Idigbe
authors: M A
authors: MA
authors: Mansilla
authors: E A
authors: EA
authors: Dragan
authors: A L
authors: AL
authors: Petrin
authors: S A
authors: SA
authors: Bullard
authors: A O
authors: AO
authors: Uduezue
authors: O
authors: O
authors: Akpata
authors: A O
authors: AO
authors: Osaguona
authors: H O
authors: HO
authors: Olasoji
authors: T O
authors: TO
authors: Ligali
authors: B M
authors: BM
authors: Kejeh
authors: K R
authors: KR
authors: Iseh
authors: P B
authors: PB
authors: Olaitan
authors: A R
authors: AR
authors: Adebola
authors: E
authors: E
authors: Efunkoya
authors: O A
authors: OA
authors: Adesina
authors: O M
authors: OM
authors: Oluwatosin
authors: J C
authors: JC
authors: Murray
mesh_terms: D044383:Black People / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000453:epidemiology / Q000235:genetics*; D002972:Cleft Palate / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051957:MSX1 Transcription Factor / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D009549:Nigeria / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human