In a Vietnamese population, MSX1 variants contribute to cleft lip and palate.
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.
Suzuki
Yasushi
Y
Second Department of Oral and Maxillofacial Surgery, School of Dentistry Aichi-Gakuin University, Nagoya, Japan.
Jezewski
Peter A
PA
Machida
Junichiro
J
Watanabe
Yoriko
Y
Shi
Min
M
Cooper
Margaret E
ME
Viet
Le Thi
le T
Nguyen
Thi Duc Tin
TD
Hai
Huynh
H
Natsume
Nagato
N
Shimozato
Kazuo
K
Marazita
Mary L
ML
Murray
Jeffrey C
JC
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
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