[Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate].
BACKGROUND
Mutations of the MSX1 gene may contribute to non-syndromic forms of cleft lip and/or cleft palate.


OBJECTIVE
To search for mutations of MSX1 coding regions, including one highly conserved non-coding region in the single intron, among Chilean patients with cleft lip/palate.


METHODS
We studied 45 patients with cleft lip/palate and their parents. Oral mucosa samples were obtained with a swab. DNA was extracted and amplified by PCR.


RESULTS
Two missense mutations (G16D and G34A) were identified in this study that may be useful for future admixture studies. The G16D mutation appears to disrupt a possible splicing site and may contribute to clefting in this population.


CONCLUSIONS
Rare MSX1 mutations are found in some cases of cleft lip and/or cleft palate but others remain to be found most likely in other regulatory regions of the gene.
Vieira
Alexandre R
AR
Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.
Castillo Taucher
Silvia
S
Aravena
Teresa
T
Astete
Carmen
C
Sanz
Patricia
P
Tastets
Maía Eugenia
ME
Monasterio
Luis
L
Murray
Jeffrey C
JC
D002677:Chile; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D005801:Genes, Homeobox / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D051957:MSX1 Transcription Factor; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D014157:Transcription Factors / Q000235:genetics*
D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; D014157:Transcription Factors
Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales.