Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta
Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta
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DOI：
10.1111/j.1365-2591.2009.01617.x
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发表时间：
2009-11-01
影响因子：
5
通讯作者：
Kim, J. -W.
中科院分区：
文献类型：
--
作者：
Hyun, H. -K.;Lee, S. -K.;Kim, J. -W.
P>目的确定患有低钙化型釉质生成不全症家族的潜在分子遗传学病因，并研究已知 FAM83H 突变的牙釉质和牙本质的硬度。方法学基于候选基因方法对 FAM83H 进行突变筛选。所有外显子和外显子-内含子边界均被扩增并测序。进行显微硬度测试以测量维氏显微硬度值。结果在FAM83H的最后一个外显子中鉴定出一种新的无义突变（c.1354C>T，p.Q452X），该突变导致牙釉质柔软、未钙化。受影响的牙釉质极其柔软（约为正常对照的 17%），但下面的牙本质与正常对照一样坚硬。结论突变分析显示 FAM83H 基因存在新突变。牙本质的硬度不受突变影响，而牙釉质却极其柔软。
P>AimTo determine the underlying molecular genetic aetiology of a family with the hypocalcified form of amelogenesis imperfecta and to investigate the hardness of the enamel and dentine of a known FAM83H mutation.MethodologyMutational screening of the FAM83H on the basis of candidate gene approach was performed. All exons and exon-intron boundaries was amplified and sequenced. A microhardness test was performed to measure the Vickers microhardness value.ResultsA novel nonsense mutation (c.1354C > T, p.Q452X) was identified in the last exon of FAM83H, which resulted in soft, uncalcified enamel. The affected enamel was extremely soft (about 17% of the normal control), but the underlying dentine was as hard as the normal control.ConclusionsMutational analysis revealed a novel mutation in FAM83H gene. Hardness of dentine was not affected by the mutation, whilst the enamel was extremely soft.