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

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

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.

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.

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.