Article
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses.
Clinical genetics - 1 Oct 2022
Kantaputra Piranit Nik, Guven Yeliz, Tripuwabhrut Kanich, Adisornkanj Ploy, Hatsadaloi Athiwat, Kaewgahya Massupa, Olsen Bjorn, Ngamphiw Chumpol, Jatooratthawichot Peeranat, Tongsima Sissades, Ketudat Cairns James R
Abstract excerpt
WNT/β-catenin and BMP signaling pathways play important roles in the process of tooth development. Dysregulation of WNT/β-catenin and BMP signaling is implicated in a number of human malformations, including dental anomalies. Whole exome and Sanger sequencing identified seven patients with LRP5 mutations (p.Asn1121Asp, p.Asp856Asn, p.Val1433Met, and p.Val1245Met) and six patients with BMP4 mutations (p.Asn150Lys,...
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