Tooth ultrastructure of a novel <i>COL1A2</i> mutation expanding its genotypic and phenotypic spectra

Intarak, Narin; Budsamongkol, Thunyaporn; Theerapanon, Thanakorn; Chanamuangkon, Theerapat; Srijunbarl, Anucharte; Boonprakong, Lawan; Porntaveetus, Thantrira; Shotelersuk, Vorasuk

doi:10.1111/odi.13657

Cited by 7 publications

(10 citation statements)

References 40 publications

(49 reference statements)

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“…The EDS results showed that the calcium content of the DGI dentin was significantly higher than in normal dentin. The reason may be that besides the initial mineralization process, differences in set of teeth, age, and dentin ultrastructure may cause the difference in mineral composition (40). In their study, Park et al (41), reported that the DGI maxillary first molars of 9-year-old girl showed lower Mg content but no difference in Ca content and Ca/P ratio, which is consistent with previous study (42) of DGI primary teeth.…”

Section: Discussionsupporting

confidence: 80%

Phenotype and molecular characterizations of a family with dentinogenesis imperfecta shields type II with a novel DSPP mutation

Du¹,

Cao²,

Liu³

et al. 2021

Ann Transl Med

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Section: Discussionsupporting

confidence: 80%

Phenotype and molecular characterizations of a family with dentinogenesis imperfecta shields type II with a novel DSPP mutation

Du¹,

Cao²,

Liu³

et al. 2021

Ann Transl Med

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“…Finally, two distinctive features were also reported where fibres found lacked clear cross-striated pattern and abundant intratubular fibres [ 30 , 36 ]. In OI type III, one study found an occasional occurrence of parallel-aligned collagen fibres in defective atubular dentin, while in type IV OI, fibres were only described as inconsistently arranged [ 21 , 23 ].…”

Section: Resultsmentioning

confidence: 99%

“…Teeth affected by DI clinically can appear normal in shape with an opalescent amber hue, as shown in Figure 1 [ 21 ]. and frequently chipped enamel.…”

Section: Introductionmentioning

confidence: 99%

“…Others reported random organisation and disoriented collagen fibres [ 25 , 26 ]. More recent studies found that the defect was in collagen quantity and reported a decrease in collagen fibres [ 21 , 27 , 28 ]. However, the literature reporting on the ultrastructural dentin collagen defects is limited, especially when compared to studies focusing on dermal or skeletal collagen.…”

Section: Introductionmentioning

confidence: 99%

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Morphological and Ultrastructural Collagen Defects: Impact and Implications in Dentinogenesis Imperfecta

2023

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Collagen is the building block for the extracellular matrix in bone, teeth and other fibrous tissues. Osteogenesis imperfecta (OI), or brittle bone disease, is a heritable disorder that results from defective collagen synthesis or metabolism, resulting in bone fragility. The dental manifestation of OI is dentinogenesis imperfecta (DI), a genetic disorder that affects dentin structure and clinical appearance, with a characteristic feature of greyish-brown discolouration. The aim of this study was to conduct a systematic review to identify and/or define any ultrastructural changes in dentinal collagen in DI. Established databases were searched: Cochrane Library, OVID Embase, OVID Medline and PubMed/Medline. Search strategies included: Collagen Ultrastructure, DI and OI. Inclusion criteria were studies written in English, published after 1990, that examined human dental collagen of teeth affected by DI. A Cochrane data extraction form was modified and used for data collection. The final dataset included seventeen studies published from 1993 to 2021. The most prevalent findings on collagen in DI teeth were increased coarse collagen fibres and decreased fibre quantity. Additional findings included changes to fibre orientation (i.e., random to parallel) and differences to the fibre organisation (i.e., regular to irregular). Ultrastructural defects and anomalies included uncoiled collagen fibres and increased D-banding periodicity. Studies in collagen structure in DI reported changes to the surface topography, quantity, organisation and orientation of the fibres. Moreover, ultrastructural defects such as the packing/coiling and D-banding of the fibrils, as well as differences in the presence of other collagens are also noted. Taken together, this study provides an understanding of the changes in collagen and its impact on clinical translation, paving the way for innovative treatments in dental treatment.

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“…Taurodontism is classified into hypotaurodontism, mesotaurodontism, and hypertaurodontism [ 35 ]. It can occur as an isolated trait or as a part of genetic syndromes such as amelogenesis imperfecta ( AMELX or DLX3 ), Down syndrome (Trisomy 21), ectodermal dysplasia (EDA) and osteogenesis imperfecta ( COL1A1 and COL1A2 ) [ 36 – 38 ]. Hypertaurodontism, which was observed in our patient, expands the phenotypic spectrum of ITGB6 -related disorder.…”

Section: Discussionmentioning

confidence: 99%

Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype and review of literature

et al. 2023

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Objectives To characterize phenotype and genotype of amelogenesis imperfecta (AI) in a Thai patient, and review of literature. Materials and methods Variants were identified using trio-exome and Sanger sequencing. The ITGB6 protein level in patient’s gingival cells was measured. The patient’s deciduous first molar was investigated for surface roughness, mineral density, microhardness, mineral composition, and ultrastructure. Results The patient exhibited hypoplastic-hypomineralized AI, taurodontism, and periodontal inflammation. Exome sequencing identified the novel compound heterozygous ITGB6 mutation, a nonsense c.625 G > T, p.(Gly209*) inherited from mother and a splicing c.1661-3 C > G from father, indicating AI type IH. The ITGB6 level in patient cells was significantly reduced, compared with controls. Analyses of a patient’s tooth showed a significant increase in roughness while mineral density of enamel and microhardness of enamel and dentin were significantly reduced. In dentin, carbon was significantly decreased while calcium, phosphorus, and oxygen levels were significantly increased. Severely collapsed enamel rods and a gap in dentinoenamel junction were observed. Of six affected families and eight ITGB6 variants that have been reported, our patient was the only one with taurodontism. Conclusion We report the hypoplasia/hypomineralization/taurodontism AI patient with disturbed tooth characteristics associated with the novel ITGB6 variants and reduced ITGB6 expression, expanding genotype, phenotype, and understanding of autosomal recessive AI.

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Tooth ultrastructure of a novel COL1A2 mutation expanding its genotypic and phenotypic spectra

Cited by 7 publications

References 40 publications

Phenotype and molecular characterizations of a family with dentinogenesis imperfecta shields type II with a novel DSPP mutation

Phenotype and molecular characterizations of a family with dentinogenesis imperfecta shields type II with a novel DSPP mutation

Morphological and Ultrastructural Collagen Defects: Impact and Implications in Dentinogenesis Imperfecta

Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype and review of literature

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