A novel missense mutation (p.P52R) in amelogenin gene causing X-linked amelogenesis imperfecta
A novel missense mutation (p.P52R) in amelogenin gene causing X-linked amelogenesis imperfecta
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DOI：
10.1177/154405910708600111
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发表时间：
2007-01-01
影响因子：
7.6
通讯作者：
Ariga, T.
中科院分区：
文献类型：
--
作者：
Kida, M.;Sakiyama, Y.;Ariga, T.
牙釉质发育异常是一种遗传性疾病，其特征是牙釉质形成异常。在这里，我们报告了一个日本家庭，X连锁AI至少传播了四代。突变分析发现釉原蛋白基因第5外显子有一个新的突变（p.P52R）。突变被检测为杂合子在受影响的女性和半合子在其受影响的父亲。受影响的姐妹篇表现出牙釉质表面上的垂直脊，而受影响的父亲有薄，光滑，淡黄色的牙釉质，牙间间隙明显扩大。为了研究该家系的病理原因，我们合成了突变型釉原蛋白p.P52R蛋白，并在体外对其进行了评价。此外，我们还通过X射线衍射分析和X射线荧光分析研究了正常牙齿和受影响牙齿之间化学成分的差异。我们相信这些结果将极大地帮助我们理解X连锁AI的发病机制。
Amelogenesis imperfecta ( AI) is a hereditary disease with abnormal dental enamel formation. Here we report a Japanese family with X-linked AI transmitted over at least four generations. Mutation analysis revealed a novel mutation (p.P52R) in exon 5 of the amelogenin gene. The mutation was detected as heterozygous in affected females and as hemizygous in their affected father. The affected sisters exhibited vertical ridges on the enamel surfaces, whereas the affected father had thin, smooth, yellowish enamel with distinct widening of inter-dental spaces. To study the pathological cause underlying the disease in this family, we synthesized the mutant amelogenin p.P52R protein and evaluated it in vitro. Furthermore, we studied differences in the chemical composition between normal and affected teeth by x-ray diffraction analysis and x-ray fluorescence analysis. We believe that these results will greatly aid our understanding of the pathogenesis of X-linked AI.