A novel LRP6 variant in a Japanese family with oligodontia.

Goto, Hiroki; Kimura, Masashi; Machida, Junichiro; Ota, Akiko; Nakashima, Mitsuko; Tsuchida, Naomi; Adachi, Junya; Aoki, Yoshihiko; Tatematsu, Tadashi; Takahashi, Katsu; Sana, Masatoshi; Nakayama, Atsuo; Suzuki, Shintaro; Nagao, Toru; Matsumoto, Naomichi; Tokita, Yoshihito

Goto, Hiroki; Kimura, Masashi; Machida, Junichiro; Ota, Akiko; Nakashima, Mitsuko; Tsuchida, Naomi; Adachi, Junya; Aoki, Yoshihiko; Tatematsu, Tadashi; Takahashi, Katsu; Sana, Masatoshi; Nakayama, Atsuo; Suzuki, Shintaro; Nagao, Toru; Matsumoto, Naomichi; Tokita, Yoshihito.

Afiliación

Goto H; Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
Kimura M; Department of Oral and Maxillofacial Surgery, Toyokawa City Hospital, Toyokawa, Japan.
Machida J; Department of Disease Model, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
Ota A; Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
Nakashima M; Department of Oral and Maxillofacial Surgery, Ogaki Municipal Hospital, Ogaki, Japan.
Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Adachi J; Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
Aoki Y; Department of Oral and Maxillofacial Surgery, Toyota Memorial Hospital, Toyota, Japan.
Tatematsu T; Department of Oncology, Toyota Memorial Hospital, Toyota, Japan.
Takahashi K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Sana M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Nakayama A; Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Suzuki S; Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
Nagao T; Department of Disease Model, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
Matsumoto N; Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
Tokita Y; Department of Disease Model, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.

Hum Genome Var ; 8(1): 30, 2021 Jul 20.

Article en En | MEDLINE | ID: mdl-34285199

ABSTRACT

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/ß-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.

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2021 Tipo del documento: Article País de afiliación: Japón

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