Identification of causal genes in tooth agenesis by exome sequencing

恒牙发育不全是最常见的发育异常之一，分子研究表明，许多基因参与牙齿形态发生，许多转录因子和信号分子调控基因表达。Msx1、PAX9和AXIN2基因的显性功能缺失突变与非综合征型牙齿发育不全的家族性形式有关。另一方面，外显子组测序已被证明是剖析疾病和特征的分子基础的一种优雅的遗传工具。利用全外显子组测序，我们在下切牙发育不良患者中发现了新的突变。

Permanent tooth agenesis is among the most common developmental anomalies.Molecular studies have shown that many genes are involved in tooth morphogenesis, and many transcription factors and signaling molecules are regulating gene expression. Dominant loss-of-function mutations in MSX1, PAX9, and AXIN2 have been implicated in familial forms of non-syndromic tooth agenesis. On the other hand, Exome sequencing has proven to be an elegant genetic tool for dissecting the molecular basis of diseases and traits. Using whole-exome sequencing, we identified novel mutations in patients with tooth agenesis of lower incisors.