WNT10A variants isolated from Japanese patients with congenital tooth agenesis

Abstract

It has been reported that dozens of WNT10A variants are associated with human isolated tooth agenesis, however, little is known about the precise phenotypes. In 50 Japanese patients with severe congenital tooth agenesis, we identified 11 patients with WNT10A variants. Comparing phenotypes between the tooth agenesis patients carrying the wild-type and variants of WNT10A, we revealed that the development of lateral incisors is relatively susceptive to insufficiency of WNT/β-catenin signaling.

Figure 1

(a) The ratio of missing teeth in each maxillary and mandibular position of all the 50 patients with tooth agenesis in this study (male, N=21; female, N=29). (b) The ratio of missing teeth in each maxillary and mandibular position of the tooth agenesis patients with (dark gray columns; N=11), and without miss sense variant of WNT10A gene (light gray columns; N=39). (c) The susceptibility of each tooth to the WNT signal defect. These values are defined as the quotient of the each missing tooth ratio of the patients with WNT10A variant by that without WNT10A variant. Lateral incisors of maxilla and mandible, and maxillary canine are sensitive to WNT signaling. We combined the left and right teeth, since no statistically significant difference between the left and right sides.