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.
Dentaland Clinic, Chiang Mai, Thailand.
J Hum Genet. 2018 Jul;63(7):811-820. doi: 10.1038/s10038-018-0448-5. Epub 2018 Apr 10.
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.
我们报告了一例泰国父亲（患者 1）和他的女儿（患者 2）患有 IV 型成骨不全症和牙本质生成不全症。两人均为 COL1A2 中的 c.1451G>A（p.Gly484Glu）突变的杂合子。这位泰国拳击手父亲患有非常轻微的成骨不全症，没有低创伤性骨折的病史。患者 2 的 DI 的乳牙和另一名 OI 患者的 DI 的乳牙的扫描电子显微镜显示了新发现的 DI 牙齿的牙齿表现。正常的牙本质和牙骨质可能有小面积的异位矿化。患有 DI 的牙齿在牙本质和牙骨质中有组织良好的异位矿化。牙骨质和牙本质交界处的晶体的“薯条外观”以及异常的牙骨质从未与牙本质生成不全症、孤立性或与成骨不全症相关的牙本质生成不全症相关报道过。我们的研究首次表明，异常的胶原纤维可导致牙本质和牙骨质的异位矿化，异常的牙骨质可能是成骨不全症的一部分。
