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A splicing mutation in  VPS4B  can cause dentin dysplasia type I (DD-I), a hereditary autosomal-dominant disorder characterized by rootless teeth, the etiology of which is genetically heterogeneous. In our study, dental follicle cells (DFCs) were isolated and cultured from a patient with DD-I and compared with those from an age-matched, healthy control. In a previous study, this DD-I patient was confirmed to have a loss-of-function splicing mutation in  VPS4B  (IVS7 + 46C > G). The results from this study showed that the isolated DFCs were vimentin-positive and CK14-negative, indicating that the isolated cells were derived from the mesenchyme. DFCs harboring the  VPS4B  mutation had a significantly higher proliferation rate from day 3 to day 8 than control DFCs, indicating that  VPS4B  is involved in cell proliferation. The cells were then replenished with osteogenic medium to investigate how the  VPS4B  mutation affected osteogenic differentiation. Induction of osteogenesis, detected by alizarin red and alkaline phosphatase staining in vitro, was decreased in the DFCs from the DD-I patient compared to the control DFCs. Furthermore, we also found that the  VPS4B  mutation in the DD-I patient downregulated the expression of osteoblast-related genes, such as  ALP ,  BSP ,  OCN, RUNX2 , and their encoded proteins. These outcomes confirmed that the DD-I-associated  VPS4B  mutation could decrease the capacity of DFCs to differentiate during the mineralization process and may also impair physiological root formation and bone remodeling. This might provide valuable insights and implications for exploring the pathological mechanisms underlying DD-I root development.

VPS4B mutation impairs the osteogenic differentiation of dental follicle cells derived from a patient with dentin dysplasia type I