Review of the Genetic Basis of Jaw Malformations

Abstract

Genetic etiologies for congenital anomalies of the facial skeleton, namely, the maxilla and mandible, are important to understand and recognize. Malocclusions occur when there exist any significant deviation from what is considered a normal relationship between the upper jaw (maxilla) and the lower jaw (mandible). They may be the result of anomalies of the teeth alone, the bones alone, or both. A number of genes play a role in the facial skeletal development and are regulated by a host of additional regulatory molecules. As such, numerous craniofacial syndromes specifically affect the development of the jaws. The following review discusses several genetic anomalies that specifically affect the bones of the craniofacial skeleton and lead to malocclusion.

Teratogenicity and toxicity of the new BPA alternative TMBPF, and BPA, BPS, and BPAF in chick embryonic development

“…The sublethal and lethal concentrations found here, in the low to high nM range, are environmentally relevant and very similar to concentrations that are typically found in the environment and in human body fluids, at around 1–20 nM ( Flint et al, 2012 , Joint and WHO, 2011 , Liao et al, 2012 , Rudel et al, 1998 , Vandenberg et al, 2007 , Winnebeck, 2013 , Yamazaki et al, 2015 ). Interestingly, craniofacial anomalies, similar to what we found in chick embryos, are one of the most frequent birth defects in humans worldwide, that have complicated genetic and environmental etiologies that are often unknown ( Ahmed et al, 2016 , Yoon et al, 2016 ). Therefore, in utero exposure to BPA replacements may pose risks for early embryo and fetal development in both animals and humans.…”

Impaired ribosome biogenesis: mechanisms and relevance to cancer and aging

“…A minority of TCS cases (~8%) are associated with mutations in the POLR1C and POLR1D genes, which encode the RPAC1 and RPAC2 proteins, respectively. Both RPAC1 and RPAC2 proteins are parts of the RNA polymerase I and III complexes [123,124]. The TCOF1 gene encodes a protein named Treacle, which has a prominent role in both rRNA synthesis and the early processing steps [125,126].…”

Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle

“…A condition also termed mandibulofacial dysostosis is described in human literature as a heterogeneous anatomic group of disorders; the described condition in Hereford cattle is not analogous to human MD. The human MD condition more broadly affects chondrocyte and osteoblast differentiation with dysostosis most apparent in, but not limited to, the face [ 34 ]. Implicated mutations in EFTUD2 in human MD are unrelated to CNCC migration and differentiation [ 35 , 36 ].…”