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Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation.
J Hum Genet. 2018 Jul; 63(7):811-820.JH

Abstract

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.

Authors+Show Affiliations

Center of Excellence in Medical Genetics Research, Chiang Mai University; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand. dentaland17@gmail.com. Dentaland Clinic, Chiang Mai, Thailand. dentaland17@gmail.com.Department of Orthopaedic surgery, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.Center of Excellence in Medical Genetics Research, Chiang Mai University; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.Genome Technology Research Unit, National Center for Genetic Engineering and Biotechnology (BIOTEC), Thailand Science Park, Khlong Luang, Pathum Thani, 12120, Thailand.Genome Technology Research Unit, National Center for Genetic Engineering and Biotechnology (BIOTEC), Thailand Science Park, Khlong Luang, Pathum Thani, 12120, Thailand.Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

29636545

Citation

Kantaputra, Piranit Nik, et al. "Osteogenesis Imperfecta With Ectopic Mineralizations in Dentin and Cementum and a COL1A2 Mutation." Journal of Human Genetics, vol. 63, no. 7, 2018, pp. 811-820.
Kantaputra PN, Sirirungruangsarn Y, Intachai W, et al. Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation. J Hum Genet. 2018;63(7):811-820.
Kantaputra, P. N., Sirirungruangsarn, Y., Intachai, W., Ngamphiw, C., Tongsima, S., & Dejkhamron, P. (2018). Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation. Journal of Human Genetics, 63(7), 811-820. https://doi.org/10.1038/s10038-018-0448-5
Kantaputra PN, et al. Osteogenesis Imperfecta With Ectopic Mineralizations in Dentin and Cementum and a COL1A2 Mutation. J Hum Genet. 2018;63(7):811-820. PubMed PMID: 29636545.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation. AU - Kantaputra,Piranit Nik, AU - Sirirungruangsarn,Yuddhasert, AU - Intachai,Worrachet, AU - Ngamphiw,Chumpol, AU - Tongsima,Sissades, AU - Dejkhamron,Prapai, Y1 - 2018/04/10/ PY - 2017/10/24/received PY - 2018/03/12/accepted PY - 2018/03/11/revised PY - 2018/4/11/pubmed PY - 2018/10/13/medline PY - 2018/4/12/entrez SP - 811 EP - 820 JF - Journal of human genetics JO - J Hum Genet VL - 63 IS - 7 N2 - 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. SN - 1435-232X UR - https://www.unboundmedicine.com/medline/citation/29636545/Osteogenesis_imperfecta_with_ectopic_mineralizations_in_dentin_and_cementum_and_a_COL1A2_mutation_ L2 - http://www.diseaseinfosearch.org/result/5451 DB - PRIME DP - Unbound Medicine ER -