Research
Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital
Published

Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension

    Research output: Contribution to journalReviewResearchpeer-review

  2. Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Usher syndrome in Denmark: mutation spectrum and some clinical observations

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. The pathogenicity of genetic variants previously associated with left ventricular non-compaction

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Phenotypic variability in Muenke syndrome-observations from five Danish families

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Primary failure of eruption of teeth in two siblings with a novel mutation in the PTH1R gene

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Concussion and Subluxation

    Research output: Chapter in Book/Report/Conference proceedingBook chapterCommunication

  5. Crown Fractures

    Research output: Chapter in Book/Report/Conference proceedingBook chapterCommunication

View graph of relations

BACKGROUND: Dentinogenesis 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.

METHODS: Nine 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.

RESULTS: The 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.

CONCLUSION: The different mutations in the DSPP gene were accompanied by distinct phenotypes. Enamel defects suggested deficit in preameloblast function during the early stages of amelogenesis.

Original languageEnglish
JournalMolecular Genetics & Genomic Medicine
Volume6
Issue number3
Pages (from-to)339-349
ISSN2324-9269
DOIs
Publication statusPublished - May 2018

    Research areas

  • Adolescent, Adult, Child, Child, Preschool, Dental Enamel/physiology, Dentin/pathology, Dentinogenesis Imperfecta/genetics, Family, Female, Genotype, Humans, Male, Middle Aged, Mutation, Netherlands/epidemiology, Pedigree, Phenotype, Sequence Analysis, DNA, Tooth/pathology

ID: 56438100