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Genet Med. 2004 May-Jun;6(3):117-25.

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

Author information

1
Second Department of Oral and Maxillofacial Surgery, School of Dentistry Aichi-Gakuin University, Nagoya, Japan.

Abstract

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.

[Indexed for MEDLINE]

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