Genetic Mutations Leading to Dento-Maxillofacial Abnormalities in Mice: A Systematic Review.

Introduction: To systematically review the available literature reporting on genetic mutations leading to dento-maxillofacial malformations in mice.

Materials and methods: An electronic search was performed across Embase, PubMed, Web of Science, and Scopus databases up to May 2024, targeting all in vivo studies on gene mutations causing dento-maxillofacial deformities in mice. Studies reporting oral clefts were excluded. Data collected included genetic background, sex distribution, observation times, sample sizes, interventions, affected genes, zygosity, dento-maxillofacial anomalies, and associated human syndromes. Risk of bias was evaluated using the SYRCLE tool.

Results: Of 12,968 articles, 215 were included. The most common genetic background was C57BL6/J (B6) (n = 83), and knock-out was the most common intervention (n = 142). A total of 172 studies included homozygous mice. The five most studied genes were Amelx, Bmp-2, Dspp, Enam, and Runx2. Dento-alveolar anomalies were more commonly reported (n = 175) than skeletal (n = 65). Skeletal anomalies were mostly related to micrognathia (n = 14), agnathia (n = 5), dysplasia (n = 1), or reduced jaw size (n = 14). Risk of bias was moderate.

Conclusions: Key genes such as Amelx, Bmp-2, Dspp, Enam, and Runx2 implicated in dento-maxillofacial abnormalities in mice, detailing the most prevalent skeletal and dento-alveolar anomalies. These findings offer insights for developing gene therapy and diagnosing congenital malformations.