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Updated: Aug 22, 2026

Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
In a Vietnamese population, MSX1 variants contribute to cleft lip and palate
Yasushi Suzuki1, Peter A Jezewski, Junichiro Machida
1Second Department of Oral and Maxillofacial Surgery, School of Dentistry Aichi-Gakuin University, Nagoya, Japan.
Purpose:
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.
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