Congenital tooth agenesis is a common anomaly in human development. We performed exome sequence analysis of genomic DNA collected from Japanese patients with tooth agenesis and their relatives. We found a novel single-nucleotide insertion in the LRP6 gene, the product of which is involved in Wnt/β-catenin signaling as a coreceptor for Wnt ligands. The single-nucleotide insertion results in a premature stop codon in the extracellular region of the encoded protein.

中文翻译：

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日本少牙症家族中的一种新型 LRP6 变体

先天性牙齿发育不全是人类发育中常见的异常现象。我们对从日本牙齿发育不全患者及其亲属收集的基因组 DNA 进行了外显子组序列分析。我们在LRP6基因中发现了一个新的单核苷酸插入，其产物作为 Wnt 配体的辅助受体参与 Wnt/β-catenin 信号传导。单核苷酸插入导致编码蛋白质的细胞外区域过早终止密码子。