Hereditary dentine diseases resulting from mutations in DSPP gene

Area of Science:

• Genetics
• Biochemistry
• Dentistry

Background:

• Dentinogenesis imperfecta (DI) types II/III and dentin dysplasia are hereditary dentine disorders.
• These conditions are linked to mutations in the dentin sialophosphoprotein (DSPP) gene.
• DSPP protein is crucial for dentine mineralization and maturation.

Purpose of the Study:

• To review recent molecular analyses of the DSPP gene in patients with DI types II/III or dentin dysplasia.
• To correlate specific DSPP gene mutations with observed clinical phenotypes.
• To understand the role of DSPP gene variations in dentine development.

Main Methods:

• Systematic electronic literature search of PubMed and relevant references.
• Inclusion of biochemical data on DSPP protein function.
• Analysis of 52 selected studies focusing on novel or original data regarding DSPP mutations and phenotypes.

Main Results:

• Identified numerous DSPP gene mutations associated with DI types II/III and dentin dysplasia.
• Observed that mutations in different regions of the DSPP gene can lead to similar phenotypes.
• Highlighted mutations in the 3' terminus coding for DPP protein, previously less associated with these disorders.

Conclusions:

• Dentinogenesis imperfecta and dentin dysplasia may represent a single disease spectrum caused by DSPP gene mutations.
• The localization of a mutation within the DSPP gene sequence could influence the resulting phenotype.
• Further research is needed to elucidate the cellular fate and processing of normal and mutated DSPP.