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Dental properties, ultrastructure, and pulp cells associated with a novel DSPP mutation.
Oral Dis. 2018 May; 24(4):619-627.OD

Abstract

OBJECTIVE

To investigate physical characteristics and behaviours of dental pulp cells of teeth isolated from a dentinogenesis imperfecta (DGI) patient with a novel dentin sialophosphoprotein (DSPP) mutation.

SUBJECTS AND METHODS

Whole exome and Sanger sequencing were employed to identify mutations. Physical characteristics of the teeth were examined. Pulp cells' behaviours including cell proliferation, colony-forming unit, osteogenic differentiation, pluripotent markers, and mesenchymal stem cell markers were investigated.

RESULTS

The proband had opalescent brown primary teeth with extensive loss of enamel. Mutation analysis revealed a novel heterozygous 4-bp deletion, c.1915_1918delAAGT (p.K639QfsX674), in exon 5 of the DSPP associated with DGI. Analysis of the extracted primary incisor demonstrated a decrease in brightness but an increase in yellow and red chroma. The dentin showed reduced mineral density. The dentinal tubules were present in the predentin, but progressively collapsed in the dentin. The pulp cells exhibited markedly reduced CD105 expression, decreased cell proliferation, and smaller colony-forming units.

CONCLUSIONS

We identified a novel mutation in the DSPP gene which disturbed dentin characteristics and pulp cells' behaviours. Our study expands the mutation spectrum and understanding of pathologic dentin phenotypes related to the frameshift deletion in the dentin phosphoprotein (DPP) region of the DSPP gene.

Authors+Show Affiliations

Craniofacial Genetics and Stem Cells Research Group, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand. Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand. Mineralized Tissue Research Unit and Department of Anatomy, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.Mineralized Tissue Research Unit and Department of Anatomy, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.Mineralized Tissue Research Unit and Department of Anatomy, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

29117466

Citation

Porntaveetus, T, et al. "Dental Properties, Ultrastructure, and Pulp Cells Associated With a Novel DSPP Mutation." Oral Diseases, vol. 24, no. 4, 2018, pp. 619-627.
Porntaveetus T, Osathanon T, Nowwarote N, et al. Dental properties, ultrastructure, and pulp cells associated with a novel DSPP mutation. Oral Dis. 2018;24(4):619-627.
Porntaveetus, T., Osathanon, T., Nowwarote, N., Pavasant, P., Srichomthong, C., Suphapeetiporn, K., & Shotelersuk, V. (2018). Dental properties, ultrastructure, and pulp cells associated with a novel DSPP mutation. Oral Diseases, 24(4), 619-627. https://doi.org/10.1111/odi.12801
Porntaveetus T, et al. Dental Properties, Ultrastructure, and Pulp Cells Associated With a Novel DSPP Mutation. Oral Dis. 2018;24(4):619-627. PubMed PMID: 29117466.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Dental properties, ultrastructure, and pulp cells associated with a novel DSPP mutation. AU - Porntaveetus,T, AU - Osathanon,T, AU - Nowwarote,N, AU - Pavasant,P, AU - Srichomthong,C, AU - Suphapeetiporn,K, AU - Shotelersuk,V, Y1 - 2018/03/13/ PY - 2017/08/31/received PY - 2017/10/28/revised PY - 2017/10/30/accepted PY - 2017/11/9/pubmed PY - 2018/11/14/medline PY - 2017/11/9/entrez KW - dental pulp cells KW - dentin sialophosphoprotein KW - dentinal tubules KW - dentinogenesis imperfecta KW - exome sequencing SP - 619 EP - 627 JF - Oral diseases JO - Oral Dis VL - 24 IS - 4 N2 - OBJECTIVE: To investigate physical characteristics and behaviours of dental pulp cells of teeth isolated from a dentinogenesis imperfecta (DGI) patient with a novel dentin sialophosphoprotein (DSPP) mutation. SUBJECTS AND METHODS: Whole exome and Sanger sequencing were employed to identify mutations. Physical characteristics of the teeth were examined. Pulp cells' behaviours including cell proliferation, colony-forming unit, osteogenic differentiation, pluripotent markers, and mesenchymal stem cell markers were investigated. RESULTS: The proband had opalescent brown primary teeth with extensive loss of enamel. Mutation analysis revealed a novel heterozygous 4-bp deletion, c.1915_1918delAAGT (p.K639QfsX674), in exon 5 of the DSPP associated with DGI. Analysis of the extracted primary incisor demonstrated a decrease in brightness but an increase in yellow and red chroma. The dentin showed reduced mineral density. The dentinal tubules were present in the predentin, but progressively collapsed in the dentin. The pulp cells exhibited markedly reduced CD105 expression, decreased cell proliferation, and smaller colony-forming units. CONCLUSIONS: We identified a novel mutation in the DSPP gene which disturbed dentin characteristics and pulp cells' behaviours. Our study expands the mutation spectrum and understanding of pathologic dentin phenotypes related to the frameshift deletion in the dentin phosphoprotein (DPP) region of the DSPP gene. SN - 1601-0825 UR - https://www.unboundmedicine.com/medline/citation/29117466/Dental_properties_ultrastructure_and_pulp_cells_associated_with_a_novel_DSPP_mutation_ L2 - https://doi.org/10.1111/odi.12801 DB - PRIME DP - Unbound Medicine ER -