A novel LRP6 variant in a Japanese family with oligodontia

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

doi:10.1038/s41439-021-00162-w

A novel LRP6 variant in a Japanese family with oligodontia

Hum Genome Var. 2021 Jul 20;8(1):30. doi: 10.1038/s41439-021-00162-w.

Authors

Hiroki Goto^{1

2

3}, Masashi Kimura^{1

4

5}, Junichiro Machida^{1

6}, Akiko Ota⁷, Mitsuko Nakashima⁵, Naomi Tsuchida^{5

8}, Junya Adachi^{1

3}, Yoshihiko Aoki^{1

3}, Tadashi Tatematsu^{1

3}, Katsu Takahashi⁹, Masatoshi Sana¹⁰, Atsuo Nakayama¹¹, Shintaro Suzuki^{1

2}, Toru Nagao¹, Naomichi Matsumoto⁸, Yoshihito Tokita^{12

13}

Affiliations

¹ Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
² Department of Oral and Maxillofacial Surgery, Toyokawa City Hospital, Toyokawa, Japan.
³ Department of Disease Model, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
⁴ Department of Oral and Maxillofacial Surgery, Ogaki Municipal Hospital, Ogaki, Japan.
⁵ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
⁶ Department of Oral and Maxillofacial Surgery, Toyota Memorial Hospital, Toyota, Japan.
⁷ Department of Oncology, Toyota Memorial Hospital, Toyota, Japan.
⁸ Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
⁹ Dentistry and Oral surgery Tazuke Kofukai, Medical Research Institute, Kitano Hospital, Osaka, Japan.
¹⁰ Nagoya Orthodontic Clinic, Nagoya, Japan.
¹¹ Department of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
¹² Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan. tokita@inst-hsc.jp.
¹³ Department of Disease Model, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan. tokita@inst-hsc.jp.

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.

Abstract

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