ArticleMolecular genetics & genomic medicine2018
Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families.
Article in Molecular genetics & genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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14 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- The genetics of non-syndromic dentinogenesis imperfecta: a systematic review.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2025Pooled it
- Calcium phosphate polymer induced liquid precursor improves dentin bonding performance of primary teeth with dentinogenesis imperfecta type II.BMC oral health · 2026Article
- [Case report of dentinogenesis imperfecta and review of literature].Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2025Review
- Dentinogenesis imperfecta type II dentin: nanostructural mechanics analysis.BMC oral health · 2025Article
- Zebrafish Models for Skeletal and Extraskeletal Osteogenesis Imperfecta Features: Unveiling Pathophysiology and Paving the Way for Drug Discovery.Calcified tissue international · 2024Review
- Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.Clinical oral investigations · 2024Article
- Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.Frontiers in cell and developmental biology · 2024Review
- Identification of DSPP novel variants and phenotype analysis in dentinogenesis dysplasia Shields type II patients.Clinical oral investigations · 2023Article
- Translated MutantJournal of personalized medicine · 2022Article
- Micro-CT study on isolated teeth with hereditary dentin defects.Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2022Article
- Mouse Dspp frameshift model of human dentinogenesis imperfecta.Scientific reports · 2021Article
- Enamel Defects Associated With Dentin Sialophosphoprotein Mutation in Mice.Frontiers in physiology · 2021Article
- Full Mouth Rehabilitation of Two Siblings with Dentinogenesis Imperfecta Type II Using Different Treatment Modalities.International journal of environmental research and public health · 2020Article
- Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families.Molecular genetics & genomic medicine · 2018Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDentinogenesis imperfecta (DI) is a rare debilitating hereditary disorder affecting dentin formation and causing loss of the overlying enamel. Clinically, DI sufferers have a discolored and weakened dentition with an increased risk of fracture. The aims of this study were to assess genotype-phenotype findings in three families with DI-II with special reference to mutations in the DSPP gene and clinical, histological, and imaging manifestations.
methodsNine patients participated in the study (two from family A, four from family B, and three from family C). Buccal swab samples were collected from all participants and extracted for genomic DNA. Clinical and radiographic examinations had been performed longitudinally, and the dental status was documented using photographic images. Four extracted and decalcified tooth samples were prepared for histological analysis to assess dysplastic manifestations in the dentin. Optical coherence tomography (OCT) was applied to study the health of enamel tissue from in vivo images and the effect of the mutation on the function and structure of the DSPP gene was analyzed using bioinformatics software programs.
resultsThe direct DNA sequence analysis revealed three distinct mutations, one of which was a novel finding. The mutations caused dominant phenotypes presumably by interference with signal peptide processing and protein secretion. The clinical and radiographic disturbances in the permanent dentition indicated interfamilial variability in DI-II manifestations, however, no significant intrafamilial variability was observed.
conclusionThe different mutations in the DSPP gene were accompanied by distinct phenotypes. Enamel defects suggested deficit in preameloblast function during the early stages of amelogenesis.
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