Digital 3D photogrammetry with the Genex camera system is sufficiently precise and accurate for the anthropometric needs of most medical and craniofacial research designs.

Cleft lip with or without cleft palate (CL/P) is a complex trait with evidence that the clinical spectrum includes both microform and subepithelial lip defects. We identified missense and nonsense mutations in the BMP4 gene in 1 of 30 cases of microform clefts, 2 of 87 cases with subepithelial defects in the orbicularis oris muscle (OOM), 5 of 968 cases of overt CL/P, and 0 of 529 controls. These results provide confirmation that microforms and subepithelial OOM defects are part of the spectrum of CL/P and should be considered during clinical evaluation of families with clefts. Furthermore, we suggest a role for BMP4 in wound healing.

There is evidence for a genetic component in caries susceptibility, but the disease is greatly influenced by environmental factors, which are extremely difficult to control in humans. For the present study, we used DNA samples collected from 110 unrelated, non-cleft individuals older than 12 years of age from Tiquisate, Guatemala: a population with similar cultural, dietary and hygiene habits, similar access to the dentist and fluoride exposure. Forty-four individuals were designated ‘very low caries experience’ (DMFT ≤2), and 66 were designated ‘higher caries experience’ (DMFT ≧3). Single-nucleotide polymorphism markers were genotyped in selected candidate genes (ameloblastin, amelogenin, enamelin, tuftelin-1, and tuftelin interacting protein 11) that influence enamel formation. Having at least one copy of the rare amelogenin marker allele was associated with increased age-adjusted caries experience. This association was stronger in individuals with higher DMFT (DMFT ≧20; p = 0.0000001). Our results suggest that variation in amelogenin may contribute to caries susceptibility in the population studied. The approach of comparing individuals with extremely distinct caries experiences could be valuable for decreasing the potential influence of environmental factors on genetic studies of caries.

Background Cancer and congenital malformations may occasionally have a common etiology. We investigated if families segregating orofacial clefts (CL/P) presented increased cancer incidence when compared to control families. Methods We assessed 75 CL/P families and 93 control families of Caucasian ethnicity from Pittsburgh regarding positive history of cancer. Chi-square and Fisher exact tests were used to determine significant differences. Then, we performed molecular studies with genes in which mutations have been independently associated with both cancer and craniofacial anomalies. Results CL/P families reported positive family history of cancer more often than control families (p=0.0002), and had higher rates of specific cancer types: colon (p=0.0009), brain (p=0.003), leukemia (p=0.005), breast (p=0.009), prostate (p=0.01), skin (p=0.01), lung (p=0.02), and liver (0.02). Overtransmission of AXIN2 was detected in CL/P probands (p=0.003). Conclusion Families segregating CL/P may have an increased susceptibility for cancer, notably colon cancer. Further, AXIN2, a gene that when mutated increases susceptibility to colon cancer, is also associated with CL/P. Clinical Implications Individuals detected at a higher risk for disease predisposition will be able to adopt a better lifestyle avoiding exposure to other risk factors that may interact with the individual’s genotype.

There is evidence for a genetic component in caries susceptibility, and studies in humans have suggested that variation in enamel formation genes may contribute to caries. For the present study, we used DNA samples collected from 1,831 individuals from various population data sets. Single nucleotide polymorphism markers were genotyped in selected genes (ameloblastin, amelogenin, enamelin, tuftelin, and tuftelin interacting protein 11) that influence enamel formation. Allele and genotype frequencies were compared between groups with distinct caries experience. Associations with caries experience can be detected but they are not necessarily replicated in all population groups and the most expressive results was for a marker in AMELX (p = 0.0007). To help interpret these results, we evaluated if enamel microhardness changes under simulated cariogenic challenges are associated with genetic variations in these same genes. After creating an artificial caries lesion, associations could be seen between genetic variation in TUFT1 (p = 0.006) and TUIP11 (p = 0.0006) with enamel microhardness. Our results suggest that the influence of genetic variation of enamel formation genes may influence the dynamic interactions between the enamel surface and the oral cavity.