期刊
JOURNAL OF DENTAL RESEARCH
卷 81, 期 4, 页码 274-278出版社
INT AMER ASSOC DENTAL RESEARCHI A D R/A A D R
DOI: 10.1177/154405910208100410
关键词
MSX1; homeobox; odontogenesis; dental patterning
资金
- NIDCR NIH HHS [R01 DE014667-01, R01 DE014667-03, P60 DE013076, R01 DE014667, R01 DE014667-04, P60 DE013076-03S10005, R01 DE014667-02, P60 DE013076-030005, P60 DE013076-050005, P60 DE013076-040005, P60 DE013076-020005, P60 DE013076-010005, P60 DE013076-01S10005] Funding Source: Medline
MSX1 has a critical role in craniofacial development, as indicated by expression assays and transgenic mouse phenotypes. Previously, MSX1 mutations have been identified in three families with autosomal-dominant tooth agenesis. To test the hypothesis that MSX1 mutations are a common cause of congenital tooth agenesis, we screened 92 affected individuals, representing 82 nuclear families, for mutations, using single-strand conformation analysis. A Met61Lys substitution was found in two siblings from a large family with autosomal-dominant tooth agenesis. Complete concordance of the mutation with tooth agenesis was observed in the extended family. The siblings have a pattern of severe tooth agenesis similar that in to previous reports, suggesting that mutations in MSX1 are responsible for a specific pattern of inherited tooth agenesis. Supporting this theory, no mutations were found in more common cases of incisor or premolar agenesis, indicating that these have a different etiology.
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