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MSX1 and orofacial clefting with and without tooth agenesis
A Modesto1, L M Moreno, K Krahn
1Dows Institute for Dental Research, College of Dentistry, University of Iowa, IA 52242, USA.
Journal of Dental Research
|May 26, 2006
Summary
MSX1 gene mutations do not cause orofacial clefting or tooth agenesis. However, specific MSX1 variants are associated with these conditions, suggesting a role for regulatory elements in the MSX1 gene.
Area of Science:
- Genetics
- Developmental Biology
- Craniofacial Anomalies
Background:
- The MSX1 gene is a strong candidate for orofacial clefting and tooth agenesis.
- Previous studies in mice and humans suggest MSX1's involvement in these conditions.
Purpose of the Study:
- To investigate the hypothesis that MSX1 coding mutations cause orofacial clefting with or without tooth agenesis.
- To analyze the association of MSX1 variants with cleft lip/palate (CL/P) and tooth agenesis.
Main Methods:
- Screening of MSX1 coding mutations in 33 individuals with CL/P and 19 individuals with both CL/P and tooth agenesis.
- Statistical analysis to determine the association of known MSX1 variants with the studied phenotypes.
Main Results:
- No MSX1 coding mutations were identified in the study population.
- The 101C > G variant showed a significant association with combined CL/P and tooth agenesis (p = 0.0008).
- The *6C-T variant was more frequent in individuals with CL/P (p = 0.001).
Conclusions:
- MSX1 coding mutations are not the cause of orofacial clefting with or without tooth agenesis in this cohort.
- The significant association of MSX1 variants suggests that mutations in MSX1 regulatory elements may contribute to these phenotypes.
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