A family study of dentinogenesis imperfecta shields type II caused by a novel DSPP mutation and investigations on the isolated stem cells from human exfoliated deciduous teeth
This study identified a novel frameshift mutation, DSPP c.2695delA.N899fs, in a DGI-II family and demonstrated its impact on SHED proliferation, migration, and mineralization. The findings demonstrated that this novel variant disturbs dentinal characteristics and cell behavior of SHED.
Authors
- Jing Zou (ORCID: https://orcid.org/0000-0002-3618-9672)
- Zhihui Deng (ORCID: https://orcid.org/0000-0002-2046-1467)
- Ning J. Yue (ORCID: https://orcid.org/0000-0003-2003-9466)
- Qianhua Gao (ORCID: https://orcid.org/0009-0008-5747-5863)
- Qin Du
- Ling Yang (ORCID: https://orcid.org/0000-0002-8573-1093)
- Kehong Liu (ORCID: https://orcid.org/0000-0003-4252-6935)
Institutions
- University of Electronic Science and Technology of China (CN)
- Sichuan University (CN)
Publication Details
- Journal
- BMC Oral Health
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1186/s12903-025-05912-8
- Citations
- 2
- Primary Topic
- Bone and Dental Protein Studies
- Type
- article
- Field-Weighted Citation Impact
- 3.34
Funders
- Natural Science Foundation of Sichuan Province