Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation

Kantaputra, Piranit Nik; Sirirungruangsarn, Yuddhasert; Intachai, Worrachet; Ngamphiw, Chumpol; Tongsima, Sissades; Dejkhamron, Prapai

doi:10.1038/s10038-018-0448-5

Cited by 13 publications

(15 citation statements)

References 13 publications

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“…The description of periodontal phenotypes associated with OI is exceedingly rare, which is surprising considering that cementum, PDL, and alveolar bone extracellular matrices are approximately 90% type I collagen and would be expected to manifest direct effects of OIassociated mutations. A single report of type IV OI due to mutations in COL1A2 describes by scanning electron microscopy, "bush-like" ectopic calcifications on cementum surfaces of primary teeth of the affected child, the first such observation (Kantaputra et al, 2018).…”

Section: Importance Of Crtap In Dental and Periodontal Development And Functionmentioning

confidence: 99%

Dental and craniofacial defects in the Crtap^−/− mouse model of osteogenesis imperfecta type VII

Lenhart

Chu

et al. 2020

Developmental Dynamics

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Section: Importance Of Crtap In Dental and Periodontal Development And Functionmentioning

confidence: 99%

Dental and craniofacial defects in the Crtap^−/− mouse model of osteogenesis imperfecta type VII

Lenhart

Chu

et al. 2020

Developmental Dynamics

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“…DSPP encodes for a single mRNA giving three proteins including DSP (dentin sialoprotein), dentin glycoprotein (DGP), and dentin phosphoprotein (DPP). Dentinogenesis imperfecta can be associated with a number of genetic disorders especially OI, a group of brittle bone disorders caused mainly by mutations in COL1A1, and COL1A2 (Kantaputra, 2001;Kantaputra et al, 2018). It is noteworthy that the clinical and radiographic features of DGI caused by mutations in DSPP, COL1A1, and COL1A2 are not distinguishable.…”

Section: To the Editormentioning

confidence: 99%

Isolated dentinogenesis imperfecta with glass‐like enamel caused by COL1A2 mutation

Kantaputra

Chinadet

Intachai

et al. 2018

American J of Med Genetics Pt A

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Isolated dentinogenesis imperfecta or hereditary opalescent dentin or dentinogenesis imperfecta, type II (DGI1: MIM #125490) is an autosomal dominant genetic disorder, characterized by severe hypomineralization of dentin with abnormal dentin structure affecting both primary and permanent dentitions. Clinically all teeth appear blue gray or amber brown, and opalescent. Primary teeth are more severely affected than the permanent ones (de La Dure-Molla, Philippe Fournier, & Berdal, 2015;Kim & Simmer, 2007).We report clinical and molecular findings of a Thai family affected with DGI1. The proband (II-5) and six affected family members had glass-like appearance of the enamel of the primary incisors (Figure 1a, b). All affected members had a heterozygous missense mutation in COL1A2. The enamel with glass-like appearance found in our patients shows that not only dentin and cementum but also enamel is abnormal in teeth affected with DGI, and suggests a potential structural role of collagen type I in enamel biomineralization. All family members had DGI1 in both primary and permanent dentitions. Interestingly, some of them had DGI1 teeth and normal permanent teeth in the same persons.Oral examination of the proband (patient II-5) was performed 25 years ago when he was one and a half years old. Four primary incisors were erupted and the enamel was remarkably translucent and had glass-like appearance (Figure 1a). Dental X-rays were not taken.He has been healthy with no history of bone fracture. It was reported that the enamel of the primary incisors of the proband (II-5) was more translucent than that of other affected family members (Figure 1a). At FIGURE 1 (a) Primary incisors of the proband (II-5). Glass appearing enamel. Teeth are remarkably translucent. (b) Pedigree showing autosomal dominant mode of inheritance with complete penetrance [Color figure can be viewed at wileyonlinelibrary.com]

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“…All five patients were called for clinical and radiographic examination and found to have mandibular prognathism. Two members of Family 2 (II‐2 and III‐2) carried a heterozygous mutation in COL1A2 (c.1451G>A; p.Gly484Glu) and have been reported to have osteogenesis imperfecta with dentinogenesis imperfecta . Patients I‐1 and II‐1, who had mandibular prognathism and the ADAMTSL1 variant, did not have osteogenesis imperfecta, dentinogenesis imperfecta, or a COL1A2 mutation (Figure ; Table ).…”

Section: Resultsmentioning

confidence: 99%

ADAMTSL1 and mandibular prognathism

Kantaputra

Pruksametanan

Phondee³

et al. 2019

Clinical Genetics

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Mandibular prognathism is characterized by a prognathic or prominent mandible. The objective of this study was to find the gene responsible for mandibular prognathism. Whole exome sequencing analysis of a Thai family (family 1) identified the ADAMTSL1 c.176C>A variant as the potential defect. We cross‐checked our exome data of 215 people for rare variants in ADAMTSL1 and found that the c.670C>G variant was associated with mandibular prognathism in families 2 and 4. Mutation analysis of ADAMTSL1 in 79 unrelated patients revealed the c.670C>G variant was also found in family 3. We hypothesize that mutations in ADAMTSL1 cause failure to cleave aggrecan in the condylar cartilage, and that leads to overgrowth of the mandible. Adamtsl1 is strongly expressed in the condensed mesenchymal cells of the mouse condyle, but not at the cartilage of the long bones. This explains why the patients with ADAMTSL1 mutations had abnormal mandibles but normal long bones. This is the first report that mutations in ADAMTSL1 are responsible for the pathogenesis of mandibular prognathism.

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Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation

Cited by 13 publications

References 13 publications

Dental and craniofacial defects in the Crtap^−/− mouse model of osteogenesis imperfecta type VII

Dental and craniofacial defects in the Crtap^−/− mouse model of osteogenesis imperfecta type VII

Isolated dentinogenesis imperfecta with glass‐like enamel caused by COL1A2 mutation

ADAMTSL1 and mandibular prognathism

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Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation

Cited by 13 publications

References 13 publications

Dental and craniofacial defects in the Crtap−/− mouse model of osteogenesis imperfecta type VII

Dental and craniofacial defects in the Crtap−/− mouse model of osteogenesis imperfecta type VII

Isolated dentinogenesis imperfecta with glass‐like enamel caused by COL1A2 mutation

ADAMTSL1 and mandibular prognathism

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Product

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Dental and craniofacial defects in the Crtap^−/− mouse model of osteogenesis imperfecta type VII

Dental and craniofacial defects in the Crtap^−/− mouse model of osteogenesis imperfecta type VII