In this study, we performed whole-exome sequencing (WES) as previously described16 using genomic DNA from a Japanese family with congenital tooth agenesis and identified a novel frameshift mutation in LRP6. This study was approved by the Aichi-Gakuin University Committee on the Ethics of Human Experimentation (Nagoya, Japan; approval no. 58), the Institute for Developmental Research (Kasugai, Japan; approval no. 13-07) and IRB of Yokohama City University Graduate School of Medicine (Yokohama, Japan, approval no. A201200014). Here, LRP6 is linked to tooth agenesis.