Novel frameshift variant of WNT10A in a Japanese patient with hypodontia
Abstract Congenital tooth agenesis is caused by the impairment of crucial genes related to tooth development, such as Wnt signaling pathway genes. Here, we investigated the genetic causes of sporadic congenital tooth agenesis. Exome sequencing, followed by Sanger sequencing, identified a novel singl...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-01-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-023-00259-4 |
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| _version_ | 1832594929545641984 |
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| author | Michiyo Ando Yoshihiko Aoki Yasuto Sano Junya Adachi Masatoshi Sana Satoru Miyabe Satoshi Watanabe Shogo Hasegawa Hitoshi Miyachi Junichiro Machida Mitsuo Goto Yoshihito Tokita |
| author_facet | Michiyo Ando Yoshihiko Aoki Yasuto Sano Junya Adachi Masatoshi Sana Satoru Miyabe Satoshi Watanabe Shogo Hasegawa Hitoshi Miyachi Junichiro Machida Mitsuo Goto Yoshihito Tokita |
| author_sort | Michiyo Ando |
| collection | DOAJ |
| description | Abstract Congenital tooth agenesis is caused by the impairment of crucial genes related to tooth development, such as Wnt signaling pathway genes. Here, we investigated the genetic causes of sporadic congenital tooth agenesis. Exome sequencing, followed by Sanger sequencing, identified a novel single-nucleotide deletion in WNT10A (NC_000002.12(NM_025216.3):c.802del), which was not found in the healthy parents of the patient. Thus, we concluded that the variant was the genetic cause of the patient’s agenesis. |
| format | Article |
| id | doaj-art-bb04e172da454fe8a6aabcbc33c0d29a |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-bb04e172da454fe8a6aabcbc33c0d29a2025-01-19T12:15:59ZengNature Publishing GroupHuman Genome Variation2054-345X2024-01-011111310.1038/s41439-023-00259-4Novel frameshift variant of WNT10A in a Japanese patient with hypodontiaMichiyo Ando0Yoshihiko Aoki1Yasuto Sano2Junya Adachi3Masatoshi Sana4Satoru Miyabe5Satoshi Watanabe6Shogo Hasegawa7Hitoshi Miyachi8Junichiro Machida9Mitsuo Goto10Yoshihito Tokita11Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDepartment of Disease Model, Institute for Developmental Research, Aichi Developmental Disability CenterDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityDepartment of Disease Model, Institute for Developmental Research, Aichi Developmental Disability CenterNagoya Orthodontic ClinicDepartment 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 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 Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin UniversityAbstract Congenital tooth agenesis is caused by the impairment of crucial genes related to tooth development, such as Wnt signaling pathway genes. Here, we investigated the genetic causes of sporadic congenital tooth agenesis. Exome sequencing, followed by Sanger sequencing, identified a novel single-nucleotide deletion in WNT10A (NC_000002.12(NM_025216.3):c.802del), which was not found in the healthy parents of the patient. Thus, we concluded that the variant was the genetic cause of the patient’s agenesis.https://doi.org/10.1038/s41439-023-00259-4 |
| spellingShingle | Michiyo Ando Yoshihiko Aoki Yasuto Sano Junya Adachi Masatoshi Sana Satoru Miyabe Satoshi Watanabe Shogo Hasegawa Hitoshi Miyachi Junichiro Machida Mitsuo Goto Yoshihito Tokita Novel frameshift variant of WNT10A in a Japanese patient with hypodontia Human Genome Variation |
| title | Novel frameshift variant of WNT10A in a Japanese patient with hypodontia |
| title_full | Novel frameshift variant of WNT10A in a Japanese patient with hypodontia |
| title_fullStr | Novel frameshift variant of WNT10A in a Japanese patient with hypodontia |
| title_full_unstemmed | Novel frameshift variant of WNT10A in a Japanese patient with hypodontia |
| title_short | Novel frameshift variant of WNT10A in a Japanese patient with hypodontia |
| title_sort | novel frameshift variant of wnt10a in a japanese patient with hypodontia |
| url | https://doi.org/10.1038/s41439-023-00259-4 |
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