title: In a Vietnamese population, MSX1 variants contribute to cleft lip and palate.
abstract: OBJECTIVE
  To identify causes of nonsyndromic cleft lip and palate in a Vietnamese population.
  
  
  METHODS
  In this study, 175 families with at least one case of cleft lip and/or palate were studied using the candidate genes TGFA, MSX1, and TGFB3.
  
  
  RESULTS
  Transmission distortion for alleles of MSX1 were demonstrated for the whole population and two missense mutations were identified, including one (P147Q) that is found in approximately 2% of the population. The P147Q appears to arise from a founder individual based on shared haplotypes in unrelated families.
  
  
  CONCLUSIONS
  MSX1 contributes to nonsyndromic clefting in a Vietnamese population, and consistent with other studies, identifiable mutations in this gene cause about 2% of cases of nonsyndromic clefting.
authors.affiliation: Second Department of Oral and Maxillofacial Surgery, School of Dentistry Aichi-Gakuin University, Nagoya, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Peter A
authors.initials: PA
authors.lastname: Jezewski
authors.forename: Junichiro
authors.initials: J
authors.lastname: Machida
authors.forename: Yoriko
authors.initials: Y
authors.lastname: Watanabe
authors.forename: Min
authors.initials: M
authors.lastname: Shi
authors.forename: Margaret E
authors.initials: ME
authors.lastname: Cooper
authors.forename: Le Thi
authors.initials: le T
authors.lastname: Viet
authors.forename: Thi Duc Tin
authors.initials: TD
authors.lastname: Nguyen
authors.forename: Huynh
authors.initials: H
authors.lastname: Hai
authors.forename: Nagato
authors.initials: N
authors.lastname: Natsume
authors.forename: Kazuo
authors.initials: K
authors.lastname: Shimozato
authors.forename: Mary L
authors.initials: ML
authors.lastname: Marazita
authors.forename: Jeffrey C
authors.initials: JC
authors.lastname: Murray
mesh_terms: D000483:Alleles; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D005820:Genetic Testing; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D051957:MSX1 Transcription Factor; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D016211:Transforming Growth Factor alpha / Q000235:genetics; D016212:Transforming Growth Factor beta / Q000235:genetics; D053782:Transforming Growth Factor beta3; D014744:Vietnam
chemical_list: D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human; D016211:Transforming Growth Factor alpha; D016212:Transforming Growth Factor beta; D053782:Transforming Growth Factor beta3