Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes
Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes
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DOI：
10.1111/odi.12568
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发表时间：
2017-01-01
期刊：
影响因子：
3.8
通讯作者：
Astrom, E.
中科院分区：
文献类型：
--
作者：
Malmgren, B.;Andersson, K.;Astrom, E.
研究背景成骨不全（osteogenesis lasta，OI）是一组异质性结缔组织疾病，主要由I型胶原基因（COL1A1和COL1A2）突变引起。牙齿发育不全是OI的常见特征。我们调查了牙齿发育不全和胶原蛋白I型突变的个人与OI.Subjects和methodsIn这个队列研究，128个无关的个人与OI之间的关联。分析了全景X线片关于牙本质发育不全（DGI）和先天性缺牙的情况。I型胶原基因在所有的个人进行测序，并在25，多重连接依赖的探针amplified.ResultsCol1A1和Col1A2基因突变被发现在104 128个人。17%的患者被诊断为牙齿发育不全（缺牙11%，少牙6%），DGI患者更常见（P=0.016），III型OI患者为47%，而I型OI患者为12%（P=0.003），IV型OI患者为13%（P=0.017）。75%的oligodontia（6缺失的牙齿）的个人有定性突变，但有没有与OI类型，性别，或存在DGI.ConclusionThe患病率牙齿发育不全是高的（17%）在个人与OI，和OI引起的定性胶原蛋白I突变与oligodontia。
BackgroundOsteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, mainly caused by mutations in the collagen type I genes (COL1A1 and COL1A2). Tooth agenesis is a common feature of OI. We investigated the association between tooth agenesis and collagen type I mutations in individuals with OI.Subjects and methodsIn this cohort study, 128 unrelated individuals with OI were included. Panoramic radiographs were analyzed regarding dentinogenesis imperfecta (DGI) and congenitally missing teeth. The collagen I genes were sequenced in all individuals, and in 25, multiplex ligation-dependent probe amplification was performed.ResultsMutations in the COL1A1 and COL1A2 genes were found in 104 of 128 individuals. Tooth agenesis was diagnosed in 17% (hypodontia 11%, oligodontia 6%) and was more frequent in those with DGI (P=0.016), and in those with OI type III, 47%, compared to those with OI types I, 12% (P=0.003), and IV, 13% (P=0.017). Seventy-five percent of the individuals with oligodontia (6 missing teeth) had qualitative mutations, but there was no association with OI type, gender, or presence of DGI.ConclusionThe prevalence of tooth agenesis is high (17%) in individuals with OI, and OI caused by a qualitative collagen I mutation is associated with oligodontia.