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

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Taleb , K , Lauridsen , E , Daugaard-Jensen , J , Nieminen , P & Kreiborg , S 2018 , ' Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families ' , Molecular Genetics & Genomic Medicine , vol. 6 , no. 3 , pp. 339-349 .

Title: Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families
Author: Taleb, Kawther; Lauridsen, Eva; Daugaard-Jensen, Jette; Nieminen, Pekka; Kreiborg, Sven
Contributor organization: Clinicum
Department of Oral and Maxillofacial Diseases
University of Helsinki
HUS Perioperative, Intensive Care and Pain Medicine
Date: 2018-05
Language: eng
Number of pages: 11
Belongs to series: Molecular Genetics & Genomic Medicine
ISSN: 2324-9269
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 invivo 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.
Subject: bioinformatics
dentinogenesis imperfecta
3111 Biomedicine
1184 Genetics, developmental biology, physiology
313 Dentistry
Peer reviewed: Yes
Usage restriction: openAccess
Self-archived version: publishedVersion

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