A novel LRP6 variant in a Japanese family with oligodontia
oleh: Hiroki Goto, Masashi Kimura, Junichiro Machida, Akiko Ota, Mitsuko Nakashima, Naomi Tsuchida, Junya Adachi, Yoshihiko Aoki, Tadashi Tatematsu, Katsu Takahashi, Masatoshi Sana, Atsuo Nakayama, Shintaro Suzuki, Toru Nagao, Naomichi Matsumoto, Yoshihito Tokita
| Format: | Article |
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| Diterbitkan: | Nature Publishing Group 2021-07-01 |
Deskripsi
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.