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In a Vietnamese population, MSX1 variants contribute to cleft lip and palate

2004; Elsevier BV; Volume: 6; Issue: 3 Linguagem: Inglês

10.1097/01.gim.0000127275.52925.05

1530-0366

Yasushi Suzuki, Peter A. Jezewski, Junichiro Machida, Yoriko Watanabe, Min Shi, Margaret E. Cooper, Le Thi Viet, Nguyen Thi Duc Tin, Huynh Thien Hai, Nagato Natsume, Kazuo Shimozato, Mary L. Marazita, Jeffrey C. Murray,

Craniofacial Disorders and Treatments

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.