A Novel Variant in <i>Dentin Sialophosphoprotein (DSPP)</i> Gene Causes Dentinogenesis Imperfecta Type <scp>III</scp>: Case Report
Taken together, this study describes the clinical features and genetic etiology of a family with DGI-III, expanding the range of variants that cause DGI-III and enriching the phenotypes associated with variants in the signal peptide segment of DSPP. Functional analysis reveals that this variant disrupts DSPP protein secretion.
Authors
- Yuzhe Ding (ORCID: https://orcid.org/0000-0001-9285-1424)
- Ximin Xu (ORCID: https://orcid.org/0000-0003-3684-5825)
- Guohua Yuan (ORCID: https://orcid.org/0000-0002-5389-1201)
- Yan Wang (ORCID: https://orcid.org/0000-0001-5664-3994)
Institutions
- Wuhan University (CN)
- Hubei Provincial Center for Disease Control and Prevention (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1002/mgg3.70087
- Primary Topic
- Bone and Dental Protein Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Fundamental Research Funds for the Central Universities