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Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant disorder resulting from heterozygous mutations of the  TRPS1  gene. Common craniofacial abnormalities in TRPS patients include micrognathia, hypoplastic zygomatic arch, high-arched palate, and, occasionally, cleft palate. Studies have demonstrated that mice with a heterozygous  Trps1  mutation ( Trps1 +/−   mice) have similar features to patients with TRPS, including high-arched palates. However, mice with a homozygous  Trps1  mutation ( Trps1 −/−   mice) exhibit similar but more severe abnormalities, including cleft palate. Our study aimed to characterize the craniofacial phenotype to understand the role of  Trps1  in craniofacial development and gain insight on the cleft palate pathogenesis in  Trps1  deficiency. Whole-mount skeletal staining revealed hypoplastic skeletal and cartilaginous elements, steep nasal slope, and missing presphenoid in  Trps1 −/−   mice. Although several craniofacial skeleton elements were abnormal in  Trps1 −/−   mice, the  Trps1  deficiency did not appear to disrupt cranial vault development. All  Trps1 −/−   mice presented with cleft palate. Analyses of  Trps1  expression during palatogenesis detected Trps1 mRNA and protein in palatal mesenchyme and in specific regions of palatal epithelium, which suggested that Trps1 is involved in palatal fusion.  Ex vivo  culture experiments demonstrated that  Trps1 −/−   palatal shelves were unable to initiate the fusion process. On the molecular level, Trps1 deficiency resulted in decreased epithelial expression of proteins involved in palatal fusion, including chondroitin sulfate proteoglycan, transforming growth factor-beta 3, Twist1, and beta-catenin. Mesenchymal expression of chondroitin sulfate proteoglycan expression was unaffected, indicating a cell type-specific mechanism of  Trps1  regulation on chondroitin sulfate proteoglycan. In conclusion, we demonstrated that  Trps1  is involved in the development of craniofacial skeletal elements and in the initiation of the palatal shelves fusion. Furthermore, our studies uncovered that Trps1 is required for epithelial expression of several proteins involved in the palatal shelves fusion.

Trps1 Regulates Development of Craniofacial Skeleton and Is Required for the Initiation of Palatal Shelves Fusion