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Unraveling Human Cleft Lip and Palate Research

Departments of Oral Biology and Pediatric Dentistry and Center for Craniofacial and Dental Genetics, School of Dental Medicine, and Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 614 Salk Hall, Pittsburgh, PA 15261, USA; arv11{at}dental.pitt.edu

View larger version (21K): [in this window] [in a new window]   Figure 1. IRF6 clinical spectrum.

View larger version (19K): [in this window] [in a new window]   Figure 2. Missense mutations and their potential consequences.

View larger version (13K): [in this window] [in a new window]   Figure 3. MSX1 gene (not to scale). Bars indicate exons. The lines to the left and to the right from the bars indicate the 5' and 3' untranslated regions, respectively. The line connecting the exons indicates the intron. The first and last positions of the coding region of the gene are indicated by *. Numbers below the exons indicate the positions of mutations that caused the phenotypes described above the bars, and may define regions for disease susceptibility in the gene. The variants at position 34 (A34G), the intronic CA repeat marker, and the 3' untranslated region 6* C->T were described to be in linkage disequilibrium with cleft lip and palate, tooth agenesis, or both in association (Lidral et al., 1998; Vieira et al., 2003; Modesto et al., 2006).

View larger version (11K): [in this window] [in a new window]   Figure 4. MSX1 genotype-phenotype correlations, interactions, and mutations described to date. IRF6 and PAX9 were suggested to interact with MSX1 to determine tooth agenesis (Vieira et al., 2004b, 2007b; Ogawa et al., 2005, 2006). Also, TGFA and TGFB3 were suggested to interact with MSX1 to determine cleft lip and palate (Jugessur et al., 2003; Vieira et al., 2003).

View larger version (12K): [in this window] [in a new window]   Figure 5. GSTT1–maternal smoking interactions increase the risk for cleft lip and palate (Shi et al., 2007a).

View larger version (53K): [in this window] [in a new window]   Figure 6. Estimated contributions to cleft lip and palate. The contributions attributed to candidate genes, FGF genes, and MSX1 may be smaller than presented, since some of the described missense mutations could be rare, functionally neutral variants.

Journal of Dental Research, Vol. 87, No. 2, 119-125 (2008)
DOI: 10.1177/154405910808700202


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