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The permanent second molar obtained from the proband (DGI1) and the primary first molar from his affected son (DGI2) were studied for their color, roughness, mineral density, hardness, elastic modulus, mineral content, and ultrastructure, compared to the controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two novel missense <jats:italic>COL1A2<\/jats:italic> variants, c.752C\u00a0&gt;\u00a0T (p.Ser251Phe) and c.758G\u00a0&gt;\u00a0T (p.Gly253Val), were identified in both patients. The c.758G\u00a0&gt;\u00a0T was predicted to be the causative mutation. Pulp cavities of DGI1 (permanent teeth) were obliterated while those of DGI2 (primary teeth) were wide. The patients\u2019 teeth had darker and redder colors; reduced dentin hardness; decreased, disorganized, and scattered dentinal tubules and collagen fibers; and irregular dentinoenamel junction (DEJ), compared to controls. Lacunae\u2010like structures were present in DGI2.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We reported the novel causative mutation, c.758G\u00a0&gt;\u00a0T (p.Gly253Val), in <jats:italic>COL1A2<\/jats:italic> for OI type IV and DGI. The DGI dentin demonstrated inferior mechanical property and ultrastructure, suggesting severe disturbances of dentin formation. These could contribute to fragility and prone to infection of DGI teeth. This study expands phenotypic and genotypic spectra of <jats:italic>COL1A2<\/jats:italic> mutations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.13657","type":"journal-article","created":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T09:46:11Z","timestamp":1601372771000},"page":"1257-1267","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Tooth ultrastructure of a novel <i>COL1A2<\/i> mutation expanding its genotypic and phenotypic spectra"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7504-1403","authenticated-orcid":false,"given":"Narin","family":"Intarak","sequence":"first","affiliation":[{"name":"Genomics and Precision Dentistry Research Unit, Department of Physiology, Faculty of Dentistry Chulalongkorn University  Bangkok 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