A Novel Mutation in the DSPP Gene Associated with Dentinogenesis Imperfecta Type II
A Novel Mutation in the DSPP Gene Associated with Dentinogenesis Imperfecta Type II
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DOI：
10.1177/0022034508328168
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发表时间：
2009-01-01
影响因子：
7.6
通讯作者：
Kim, J. -W.
中科院分区：
文献类型：
--
作者：
Lee, S. -K.;Lee, K. -E.;Kim, J. -W.
遗传性牙本质缺陷分为牙本质发生不全和牙本质发育不良。我们发现了一个严重牙本质发育不全的家族。该家族跨越了四代，表现出常染色体显性遗传模式。先证者是一名乳牙列严重受影响的儿童，牙髓腔大开，牙髓多次暴露，类似于 DGI III 型（DGI-III）模式。我们推测 DSPP 基因的突变是造成这种严重表型的原因。突变分析揭示了 DSPP 基因第三外显子内含子-外显子边界附近的新突变（c.53T > A，p.V18D）。我们通过体外剪接测定分析了突变的影响，结果表明该突变不影响前mRNA剪接。需要进一步研究以更好地了解该疾病的性质
Hereditary dentin defects are divided into dentinogenesis imperfecta and dentin dysplasia. We identified a family segregating severe dentinogenesis imperfecta. The kindred spanned four generations and showed an autosomal-dominant pattern of inheritance. The proband was a child presenting with a severely affected primary dentition, with wide-open pulp chambers and multiple pulp exposures, resembling a DGI type III (DGI-III) pattern. We hypothesized that a mutation in the DSPP gene is responsible for this severe phenotype. Mutational analyses revealed a novel mutation (c. 53T > A, p. V18D) near the intron-exon boundary in the third exon of the DSPP gene. We analyzed the effect of the mutation by means of an in vitro splicing assay, which revealed that the mutation did not affect pre-mRNA splicing. Further studies are needed for a better understanding of the nature of the disease