Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 143A, Issue 6, Pages 538-545Publisher
WILEY
DOI: 10.1002/ajmg.a.31620
Keywords
hypodontia; oligodontia; cleft lip and palate; orofacial clefts; Kallmann syndrome; Van der Woude syndrome; PAX9; MSX1; TGFA; paired-box; muscle segment; transforming growth factor alpha
Categories
Funding
- FIC NIH HHS [D43 TW005503-05, D43 TW005503, D43 TW05503] Funding Source: Medline
- NIDCR NIH HHS [K02 DE015291-03, R01 DE014667-04, P50 DE016215-04S1, DE 08559, K02 DE015291, P50 DE016215, P50 DE016215-049003, K02 DE015291-04, R01 DE014667-01, R01 DE014667-08, R37 DE008559-18, P50 DE016215-02, DE 16215, P50 DE016215-040001, R01 DE014667-03, K02 DE015291-02, R01 DE014667-02, R01 DE014667, R37 DE008559, K02 DE015291-01, R01 DE014667-06, K02 DE015291-05, R01 DE014667-07, R01 DE008559, R01 DE014667-05] Funding Source: Medline
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Phenotypic characteristics expressed in syndromes give clues to the factors involved in the cause of isolated forms of the same defects. We investigated two genes responsible for craniofacial syndromes, FGFR1 and IRF6, in a collection of families with isolated tooth agenesis. Cheek swab samples were obtained for DNA analysis from 116 case/parent trios. Probands had at least one developmentally missing tooth, excluding third molars. in addition, we studied 89 cases and 50 controls from Ohio to replicate any positive findings. Genotyping was performed by kinetic polymerase chain-reaction or TaqMan assays. Linkage disequilibrium analysis and transmission distortion of the market alleles were performed. The same variants in the IRF6 gene that are associated with isolated orofacial clefts are also associated with human tooth agenesis (rs861019, P= 0.058; rs17015215-V2741, P=0.0006; rs7802, P=0.004). Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. The craniofacial phenotypic characteristics of these syndromes include oral clefts and preferential tooth agenesis of incisors and premolars, besides pits on the lower lips. Also it appears that preferential premolar agenesis is associated with FGFR1 (P=0.014) and IRF6 (P=0.002) markets. There were statistically significant data suggesting that IRF6 interacts not only with MSX1 (P = 0.001), but also with TGFA (P = 0.03). (c) 2007 Wiley-Liss, Inc.
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