De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family
De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family
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DOI：
10.1111/j.1600-0722.2009.00683.x
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发表时间：
2009-12-01
影响因子：
1.9
通讯作者：
Ariga, Tadashi
中科院分区：
文献类型：
--
作者：
Kida, Miyuki;Tsutsumi, Tomonori;Ariga, Tadashi
牙本质生成不全症（DGI）II型是最常见的显性遗传性牙本质缺陷之一，乳牙和恒牙都会受到影响。在这里，我们报告了一个日本家庭与常染色体显性DGI II型，包括分子遗传缺陷和病理组织学分析。突变分析发现牙本质涎磷蛋白（DSPP）基因外显子3第一密码子的第二个核苷酸发生突变（c.53T > A，p.V18D，g.1192T > A）。这种突变以前曾在一个韩国家庭中报道过。到目前为止，已经报道了24个等位DSPP突变，这是涉及DSPP V18残基的第七个突变。其中，只有一个被证明是由从头突变引起的，该突变也影响了V18氨基酸残基。DSPP V18残基在其他哺乳动物物种中高度保守。这些结果表明，V18氨基酸可能是一个敏感的突变热点，在DGI的发病机制中起着关键作用。
Dentinogenesis imperfecta (DGI) type II is one of the most common dominantly inherited dentin defects, in which both the primary and permanent teeth are affected. Here, we report a Japanese family with autosomal-dominant DGI type II, including both molecular genetic defects and pathogenesis with histological analysis. Mutation analysis revealed a mutation (c.53T > A, p.V18D, g.1192T > A) involving the second nucleotide of the first codon within exon 3 of the dentin sialophosphoprotein (DSPP) gene. This mutation has previously been reported in a Korean family. Thus far, 24 allelic DSPP mutations have been reported, and this is the seventh mutation involving the DSPP V18 residue. Among those, only one other was shown to be caused by a de novo mutation, and that mutation also affected the V18 amino acid residue. The DSPP V18 residue is highly conserved among other mammalian species. These findings thus suggest that the V18 amino acid might be a sensitive mutational hot spot, playing a critical role in the pathogenesis of DGI.