Related Experiment Video
Updated: Aug 18, 2026
Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
[Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate]
Alexandre R Vieira1, Silvia Castillo Taucher, Teresa Aravena
1Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.
Background:
Mutations of the MSX1 gene may contribute to non-syndromic forms of cleft lip and/or cleft palate.
Aim:
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.
Patients And 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.
