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A novel LRP6 variant in a Japanese family with oligodontia.

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 | 2021 Jul

REPOSITORIES: biostudies-literature

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A novel LRP6 variant in a Japanese family with oligodontia.

Goto Hiroki H Kimura Masashi M Machida Junichiro J Ota Akiko A Nakashima Mitsuko M Tsuchida Naomi N Adachi Junya J Aoki Yoshihiko Y Tatematsu Tadashi T Takahashi Katsu K Sana Masatoshi M Nakayama Atsuo A Suzuki Shintaro S Nagao Toru T Matsumoto Naomichi N Tokita Yoshihito Y

Human genome variation 20210720 1

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. ...[more]

PMID: 34285199

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