Clinical and genetic evaluation of a Chinese family with isolated oligodontia
Clinical and genetic evaluation of a Chinese family with isolated oligodontia
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一个中国孤立性少牙症家系的临床和遗传学评价
DOI：
10.1016/j.archoralbio.2013.04.007
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发表时间：
2013-09-01
影响因子：
3
通讯作者：
Xuan, Kun
中科院分区：
文献类型：
--
作者：
Qin, Han;Xu, Hong-zhi;Xuan, Kun
目的：少齿症是指先天性缺除第三磨牙以外的6颗或更多的恒牙。牙齿发育不全可分为综合征型/非综合征型和家族性/散发性。迄今为止，已经发现了300多个基因参与牙齿发育，但这些基因中只有MSX1， PAX9和AXIN2等少数基因与非综合征性少齿症有关。本研究的目的是研究汉族非综合征型少齿病的致病基因，并分析导致少齿病的突变的发病机制。设计：我们通过临床和影像学检查检查了所有的少齿病患者。根据临床表现，选择候选基因MSX、PAX9和AXIN2进行突变分析和筛选。结果：临床评价提示该家族可能表现为非综合征性少牙症。MSX1基因的DNA测序显示，两例少齿症患者发生了两个突变：外显子1的杂合子沉默突变c.348C > T （P.Gly116=）和内含子的11个核苷酸（c.469 + 56delins GCCGGGTGGGG）的纯合子缺失。然而，通过生物信息学分析，沉默突变和缺失突变被认为是已知多态性（rs34165410和rs34341187）。我们未检测到少齿症患者PAX9和AXIN2基因的任何突变。结论：我们的研究结果表明，已鉴定的多态性（c.348C > T和c.469 + 56delins GCCGGGTGGGG）可能是导致该中国家族少齿症表型的原因，但其相关性有待进一步研究。(C) 2013 Elsevier Ltd.版权所有。
Objectives: Oligodontia is defined as the congenital absence of 6 or more permanent teeth excluding the third molar. Tooth agenesis may be classified as syndromic/non-syndromic and as familial/sporadic. To date, more than 300 genes have been found to be involved in tooth development, but only a few of these genes, such as MSX1, PAX9 and AXIN2, are related to the condition of non-syndromic oligodontia. The objective of the present work was to investigate the disease-causing gene of non-syndromic oligodontia in a Han Chinese family and analyse the pathogenesis of mutations that result in oligodontia.Design: We examined all individuals of the oligodontia family by clinical and radiographic examinations. Based on the clinical manifestations, the candidate genes MSX, PAX9 and AXIN2 were selected to analyse and screen for mutations.Results: The clinical evaluation suggested that the family might show non-syndromic oligodontia. DNA sequencing of the MSX1 gene revealed two mutations in the two patients with oligodontia: a heterozygotic silent mutation, c.348C > T (P.Gly116=), in exon 1 and a homozygotic deletion of 11 nucleotides (c.469 + 56delins GCCGGGTGGGG) in the intron. However, the silent mutation and the deletion mutation were thought to be known polymorphisms (rs34165410 and rs34341187) by bioinformatics analysis. We did not detect any mutations in the PAX9 and AXIN2 genes of oligodontia patients.Conclusion: Our finding suggests that identified polymorphisms (c.348C > T and c.469 + 56delins GCCGGGTGGGG) may be responsible for the oligodontia phenotype in this Chinese family, but the association requires further study. (C) 2013 Elsevier Ltd. All rights reserved.