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，分子生物学研究表明，许多基因参与了牙齿的形态发生，许多转录因子和信号分子调控着基因的表达。MSX1、PAX9和AXIN2中的显性功能缺失突变与家族性非综合征性牙齿发育不全有关。另一方面，外显子组测序已被证明是一个优雅的遗传工具，用于解剖疾病和性状的分子基础。利用全外显子组测序，我们确定了新的突变患者的牙齿发育不全的下切牙。

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.