A novel mutation of adenomatous polyposis coli (APC) gene results in the formation of supernumerary teeth.
A novel mutation of adenomatous polyposis coli (APC) gene results in the formation of supernumerary teeth.
复制标题
腺瘤性结肠息肉病（APC）基因的新突变导致多生牙的形成
DOI：
10.1111/jcmm.13303
复制
发表时间：
2018-01
影响因子：
5.3
通讯作者：
Zhao S
中科院分区：
文献类型：
--
作者：
Yu F;Cai W;Jiang B;Xu L;Liu S;Zhao S
多余的牙齿是在正常牙齿之外长出来的牙齿。虽然有几种假说和一些分子信号通路解释了多牙的形成，但其确切的发病机制尚不清楚。为了研究多生牙相关综合征（Gardner综合征）的分子机制，需要更深入地了解多生牙及其相关综合征的病因，目的是通过产前诊断来抑制疾病的遗传。我们招募了一个患有加德纳综合症的中国家庭。多生牙及结肠息肉病变活检的血红素和伊红染色显示患者表现出明显的病理特征。采用PCR和直接测序检测APC基因突变。我们通过RNA测序（RNA‐seq）揭示了人类多生牙齿发育的病理通路和小鼠牙齿胚发育的表达谱。测序分析显示，APC基因15外显子4292‐4293‐Del GA突变导致了该家族的Gardner综合征。这种突变不仅引发了加德纳综合征的各种典型表现，而且还导致了本病例的齿瘤和多牙。此外，人类多牙的RNA - seq分析表明，APC基因是参与人类多牙发育的关键基因。小鼠牙胚发育表达谱表明，APC基因在牙胚发育中起重要作用。我们在APC基因中发现了一个新的突变，导致与加德纳综合征相关的多牙。这一信息可能有助于揭示多牙的分子发病机制。基于基因的多牙诊断和基因治疗可能在未来成为可能，我们的研究为治疗与多牙相关的其他综合征提供了高分辨率的参考。
Supernumerary teeth are teeth that are present in addition to normal teeth. Although several hypotheses and some molecular signalling pathways explain the formation of supernumerary teeth, but their exact disease pathogenesis is unknown. To study the molecular mechanisms of supernumerary tooth‐related syndrome (Gardner syndrome), a deeper understanding of the aetiology of supernumerary teeth and the associated syndrome is needed, with the goal of inhibiting disease inheritance via prenatal diagnosis. We recruited a Chinese family with Gardner syndrome. Haematoxylin and eosin staining of supernumerary teeth and colonic polyp lesion biopsies revealed that these patients exhibited significant pathological characteristics. APC gene mutations were detected by PCR and direct sequencing. We revealed the pathological pathway involved in human supernumerary tooth development and the mouse tooth germ development expression profile by RNA sequencing (RNA‐seq). Sequencing analysis revealed that an APC gene mutation in exon 15, namely 4292‐4293‐Del GA, caused Gardner syndrome in this family. This mutation not only initiated the various manifestations typical of Gardner syndrome but also resulted in odontoma and supernumerary teeth in this case. Furthermore, RNA‐seq analysis of human supernumerary teeth suggests that the APC gene is the key gene involved in the development of supernumerary teeth in humans. The mouse tooth germ development expression profile shows that the APC gene plays an important role in tooth germ development. We identified a new mutation in the APC gene that results in supernumerary teeth in association with Gardner syndrome. This information may shed light on the molecular pathogenesis of supernumerary teeth. Gene‐based diagnosis and gene therapy for supernumerary teeth may become available in the future, and our study provides a high‐resolution reference for treating other syndromes associated with supernumerary teeth.
登录
查看更多内容
影响因子：
3.1
作者：
Kamel, Sherif Galal;Kau, Chung How;English, Jeryl D.
通讯作者：
English, Jeryl D.
影响因子：
3.5
作者：
Liu, Jeng-Fen;Chen, Hui-Ling
通讯作者：
Chen, Hui-Ling
DOI：
10.1046/j.1365-263x.2001.00205.x
发表时间：
2001-01-01
影响因子：
3.8
作者：
Backman, B;Wahlin, Y B
通讯作者：
Wahlin, Y B
影响因子：
11.8
作者：
Hamada, F;Bienz, M
通讯作者：
Bienz, M
影响因子：
1.9
作者：
Ben Lagha, Nadia;Galeazzi, Jean-Marc;Maman, Louis
通讯作者：
Maman, Louis