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

© 2018 The Author(s) under exclusive licence to The Japan Society of Human Genetics. 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 COL...

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Main Authors: Piranit Nik Kantaputra, Yuddhasert Sirirungruangsarn, Worrachet Intachai, Chumpol Ngamphiw, Sissades Tongsima, Prapai Dejkhamron
Format: Journal
Published: 2018
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http://cmuir.cmu.ac.th/jspui/handle/6653943832/58231
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Institution: Chiang Mai University
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spelling th-cmuir.6653943832-582312018-09-05T04:34:34Z Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation Piranit Nik Kantaputra Yuddhasert Sirirungruangsarn Worrachet Intachai Chumpol Ngamphiw Sissades Tongsima Prapai Dejkhamron Biochemistry, Genetics and Molecular Biology Medicine © 2018 The Author(s) under exclusive licence to The Japan Society of Human Genetics. 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. 2018-09-05T04:21:27Z 2018-09-05T04:21:27Z 2018-07-01 Journal 1435232X 14345161 2-s2.0-85045136296 10.1038/s10038-018-0448-5 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85045136296&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/58231
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Biochemistry, Genetics and Molecular Biology
Medicine
spellingShingle Biochemistry, Genetics and Molecular Biology
Medicine
Piranit Nik Kantaputra
Yuddhasert Sirirungruangsarn
Worrachet Intachai
Chumpol Ngamphiw
Sissades Tongsima
Prapai Dejkhamron
Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation
description © 2018 The Author(s) under exclusive licence to The Japan Society of Human Genetics. 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.
format Journal
author Piranit Nik Kantaputra
Yuddhasert Sirirungruangsarn
Worrachet Intachai
Chumpol Ngamphiw
Sissades Tongsima
Prapai Dejkhamron
author_facet Piranit Nik Kantaputra
Yuddhasert Sirirungruangsarn
Worrachet Intachai
Chumpol Ngamphiw
Sissades Tongsima
Prapai Dejkhamron
author_sort Piranit Nik Kantaputra
title Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation
title_short Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation
title_full Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation
title_fullStr Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation
title_full_unstemmed Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation
title_sort osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a col1a2 mutation
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85045136296&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/58231
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