A novel LRP6 variant in a Japanese family with oligodontia.
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ABSTRACT: 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.
SUBMITTER: Goto H
PROVIDER: S-EPMC8292333 | biostudies-literature |
REPOSITORIES: biostudies-literature
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