craniofacial malformations

Craniofacial structures, including teeth are often affected by malformations.

Genetic variants that are sufficient for the formation of other organs may not be able to function properly during craniofacial development, with or without additional environmental cofactors such as physical constraint in utero, nutritional deficiencies, pharmacological agents, toxins, infections and radiation.

Alternatively, the same gene variant(s) may also cause disturbances elsewhere in the body plan. The craniofacial malformations, however, are usually perceived as the most unsettling ones.

Examples

 tooth agenesis

References

 Genetics and human malformations. Mues G, Kapadia H, Wang Y, D’Souza RN. J Craniofac Surg. 2009 Sep;20 Suppl 2:1652-4. PMID: 19816326 [Free]

 Wilkie AOM, Slaney SF, Oldridge M, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet. 1995;9:165–172.

 Reardon W, Winter RM, Rutland P, et al. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genet. 1994;8:98–103.

 Dode C, Levilliers J, Dupont JM, et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nature Genet. 2003;33:463–465.

 Thesleff I. Epithelial-mesenchymal signaling regulating tooth morphogenesis. J Cell Sci. 2003;116:1647–1648.

 Peters HA, Neubuser, et al. Pax genes and organogenesis: Pax9 meets tooth development. Eur J Oral Sci. 1998;106 (Suppl 1):38–43.

 Ogawa T, Kapadia H, Feng JQ, et al. Functional consequences of interactions between Pax9 and Msx1 genes in normal and abnormal tooth development. J Biol Chem. 2006;281:18363–18369.

 Wang Y, Groppe JC, Wu J, et al. Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9. 2009 submitted.

 Lammi L, Arte S, Somer M, et al. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet. 2004;74:1043–1050.

 Tao R, Jin B, Guo SZ, et al. A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. J Hum Genet. 2006;51:498–502.

 Tarpey P, Pemberton TJ, Stockton DW, et al. A novel Gln358Glu mutation in ectodysplasin with X-linked dominant incisor hypodontia. Am J Med Genet. 2007;143A:390–394.

 Gaide O, Schneider P. Permanent correction of an inherited ectodermal dysplasia with recombinant DNA. Nature Medicine. 2003;9:614–618.

 Casal ML, Lewis JR, Mauldin EA, et al. Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. Am J Hum Genet. 2007;81:1050–1060.