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


We report a Thai father (patient 1) and his daughter (patient 2) affected with osteogenesis imperfecta type IV and dentinogenesis imperfecta. Both were heterozygous for the c.1451G>A (p.Gly484Glu) mutation in COL1A2. The father, a Thai boxer, had very mild osteogenesis imperfecta with no history of low-trauma bone fractures. Scanning electron micrography of the primary teeth with DI of the patient 2, and the primary teeth with DI of another OI patient with OI showed newly recognized dental manifestations of teeth with DI. Normal dentin and cementum might have small areas of ectopic mineralizations. Teeth affected with DI have well-organized ectopic mineralizations in dentin and cementum. The “French-fries-appearance” of the crystals at the cemento-dentinal junction and abnormal cementum have never been reported to be associated with dentinogenesis imperfecta, either isolated or osteogenesis imperfecta-associated. Our study shows for the first time that abnormal collagen fibers can lead to ectopic mineralization in dentin and cementum and abnormal cementum can be a part of osteogenesis imperfecta.

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We thank the patients and their family for their kind cooperation and for allowing us to use their medical and dental information for research. This work was supported by The Center of Excellence in Medical Genetics Research, Chiang Mai University; the Thailand Research Fund (TRF grant no. BRG5800013 to P.K. and RSA5860081 to S.T.); The Dental Association of Thailand; and The Faculty of Dentistry, Chiang Mai University. We also thank Dr. M. Kevin O Carroll, Professor Emeritus of the University of Mississippi School of Dentistry, USA and Faculty Consultant at Chiang Mai University Faculty of Dentistry, Thailand, for his assistance in the preparation of the manuscript. All authors declare no conflict of interest.

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Correspondence to Piranit Nik Kantaputra.

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Kantaputra, P.N., Sirirungruangsarn, Y., Intachai, W. et al. Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation . J Hum Genet 63, 811–820 (2018).

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