[HTML][HTML] In a Vietnamese population, MSX1 variants contribute to cleft lip and palate
Y Suzuki, PA Jezewski, J Machida, Y Watanabe… - Genetics in …, 2004 - nature.com
Y Suzuki, PA Jezewski, J Machida, Y Watanabe, M Shi, ME Cooper, LT Viet, NTD Tin, H Hai…
Genetics in medicine, 2004•nature.comMethods: 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 …
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 …
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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