Tbx22, a member of the T-box family of transcription factors, is essential for normal craniofacial development. It functions as a transcriptional repressor, affecting DNA binding, sumoylation, and transcriptional repression [3,5]. Mutations in Tbx22 are associated with X-linked cleft palate (CPX) and ankyloglossia, highlighting its importance in these developmental processes [2,3,4,6]. Genetic models, such as zebrafish, help study its role in early vertebrate craniofacial patterning [8].

In a C57BL/6N mouse model with glucocorticoid -/alcohol-induced cleft palate, Tbx22 mRNA was expressed in distinct head areas during palatogenesis, and its localization in the tongue frenum correlated with the ankyloglossia phenotype [2]. In Chinese NSCL/P families, novel mutations in Tbx22 were found, with one mutation leading to abnormal transcription or translation and loss of function, and another potentially aggravating CL/P phenotypes [1]. In the Thai population, mutations in Tbx22 were a frequent cause of non-syndromic cleft palate, and a mutation was also associated with cleft lip and palate, tooth agenesis, and limb anomalies [4,6]. Additionally, FGF and BMP signaling regulate Tbx22 expression during facial and palatal development in chicken and mouse, though expression patterns differ between species [7].

In conclusion, Tbx22 is crucial for craniofacial development, especially in palatal shelf fusion and preventing cleft palate and ankyloglossia. Studies using mouse and other genetic models have revealed its role in these processes, contributing to our understanding of the genetic basis of these craniofacial disorders.