Loss-of-Function Mutations in the WNT Co-receptor Cause Autosomal-Dominant Oligodontia

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form of tooth agenesis, occurs both as an isolated anomaly and as a syndromal feature. We performed exome sequencing on 20 unrelated individuals with apparent non-syndromic oligodontia and failed to detect mutations in genes previously associated with oligodontia. In three of the probands, we detected heterozygous variants in LRP6, and sequencing of additional oligodontia-affected individuals yielded one additional mutation in LRP6.

Source: The American Journal of Human Genetics - September 17, 2015 Category: Genetics & Stem Cells Authors: Maarten P.G. Massink, Marijn A. Créton, Francesca Spanevello, Willem M.M. Fennis, Marco S. Cune, Sanne M.C. Savelberg, Isaäc J. Nijman, Madelon M. Maurice, Marie-José H. van den Boogaard, Gijs van Haaften Tags: Report Source Type: research