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 i...

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Main Authors:	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
Language:	English
Published:	Nature Publishing Group 2021-07-01
Series:	Human Genome Variation
Online Access:	https://doi.org/10.1038/s41439-021-00162-w

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spelling	doaj-283eef5389cb4fd7a15416ba58478c382021-07-25T11:31:56ZengNature Publishing GroupHuman Genome Variation2054-345X2021-07-01811310.1038/s41439-021-00162-wA novel LRP6 variant in a Japanese family with oligodontiaHiroki Goto0Masashi Kimura1Junichiro Machida2Akiko Ota3Mitsuko Nakashima4Naomi Tsuchida5Junya Adachi6Yoshihiko Aoki7Tadashi Tatematsu8Katsu Takahashi9Masatoshi Sana10Atsuo Nakayama11Shintaro Suzuki12Toru Nagao13Naomichi Matsumoto14Yoshihito Tokita15Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDepartment of Oncology, Toyota Memorial HospitalDepartment of Human Genetics, Yokohama City University Graduate School of MedicineDepartment of Human Genetics, Yokohama City University Graduate School of MedicineDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDentistry and Oral surgery Tazuke Kofukai, Medical Research Institute, Kitano HospitalNagoya Orthodontic ClinicDepartment of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability CenterDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDepartment of Stem Cell and Immune Regulation, Yokohama City University Graduate School of MedicineDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityAbstract 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.https://doi.org/10.1038/s41439-021-00162-w
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	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
spellingShingle	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 A novel LRP6 variant in a Japanese family with oligodontia Human Genome Variation
author_facet	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
author_sort	Hiroki Goto
title	A novel LRP6 variant in a Japanese family with oligodontia
title_short	A novel LRP6 variant in a Japanese family with oligodontia
title_full	A novel LRP6 variant in a Japanese family with oligodontia
title_fullStr	A novel LRP6 variant in a Japanese family with oligodontia
title_full_unstemmed	A novel LRP6 variant in a Japanese family with oligodontia
title_sort	novel lrp6 variant in a japanese family with oligodontia
publisher	Nature Publishing Group
series	Human Genome Variation
issn	2054-345X
publishDate	2021-07-01
description	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.
url	https://doi.org/10.1038/s41439-021-00162-w
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A novel LRP6 variant in a Japanese family with oligodontia

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