期刊
JOURNAL OF DENTAL RESEARCH
卷 85, 期 6, 页码 542-546出版社
INT AMER ASSOC DENTAL RESEARCHI A D R/A A D R
DOI: 10.1177/154405910608500612
关键词
MSX1; cleft lip; cleft palate; tooth agenesis
资金
- NIDCR NIH HHS [K02 DE015291-05, R01 DE014667-06, K02 DE015291-01, R01 DE014667, R01 DE014667-02, K02 DE015291-02, R01 DE014667-03, R01 DE014667-08, R01DE14677, R01 DE014667-04, K02 DE015291-03, R01 DE014667-07, R01 DE014667-05, K02 DE015291, K02 DE015291-04, R01 DE014667-01] Funding Source: Medline
MSX1 has been considered a strong candidate for orofacial clefting, based on mouse expression studies and knockout models, as well as association and linkage studies in humans. MSX1 mutations are also causal for hereditary tooth agenesis. We tested the hypothesis that individuals with orofacial clefting with or without tooth agenesis have MSX1 coding mutations by screening 33 individuals with cleft lip with or without cleft palate (CL/P) and 19 individuals with both orofacial clefting and tooth agenesis. Although no MSX1 coding mutations were identified, the known 101C > G variant occurred more often in subjects with both CL/P and tooth agenesis (p = 0.0008), while the *6C-T variant was found more often in CL/P subjects (p = 0.001). Coding mutations in MSX1 are not the cause of orofacial clefting with or without tooth agenesis in this study population. However, the significant association of MSX1 with both phenotypes implies that MSX1 regulatory elements may be mutated.
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