A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia
Abstract Frontometaphyseal dysplasia (FMD) type 2 is an autosomal dominant disorder characterized by skeletal abnormalities and caused by MAP3K7 mutation. We identified a novel missense mutation in TAB2 associated with FMD in a child with multiple congenital malformations. This case was diagnosed as...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2021-10-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-021-00166-6 |
| _version_ | 1819116803894280192 |
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| author | Asuka Hori Ohsuke Migita Rika Kawaguchi-Kawata Yoko Narumi-Kishimoto Fumio Takada Kenichiro Hata |
| author_facet | Asuka Hori Ohsuke Migita Rika Kawaguchi-Kawata Yoko Narumi-Kishimoto Fumio Takada Kenichiro Hata |
| author_sort | Asuka Hori |
| collection | DOAJ |
| description | Abstract Frontometaphyseal dysplasia (FMD) type 2 is an autosomal dominant disorder characterized by skeletal abnormalities and caused by MAP3K7 mutation. We identified a novel missense mutation in TAB2 associated with FMD in a child with multiple congenital malformations. This case was diagnosed as FMD due to joint contractures and bone deformities. This is the third report of FMD caused by a TAB2 mutation located in the TAK1-binding region. |
| first_indexed | 2024-12-22T05:22:54Z |
| format | Article |
| id | doaj.art-a2889c71fc1641f9b11cf9b77fd7efd3 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-12-22T05:22:54Z |
| publishDate | 2021-10-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-a2889c71fc1641f9b11cf9b77fd7efd32022-12-21T18:37:40ZengNature Publishing GroupHuman Genome Variation2054-345X2021-10-01811310.1038/s41439-021-00166-6A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasiaAsuka Hori0Ohsuke Migita1Rika Kawaguchi-Kawata2Yoko Narumi-Kishimoto3Fumio Takada4Kenichiro Hata5Department of Medical Genetics and Genomics, the Kitasato University Graduate School of Medical SciencesDepartment of Maternal-Fetal Biology, Research Institute, National Center for Child Health and DevelopmentDepartment of Medical Genetics and Genomics, the Kitasato University Graduate School of Medical SciencesDepartment of Maternal-Fetal Biology, Research Institute, National Center for Child Health and DevelopmentDepartment of Medical Genetics and Genomics, the Kitasato University Graduate School of Medical SciencesDepartment of Maternal-Fetal Biology, Research Institute, National Center for Child Health and DevelopmentAbstract Frontometaphyseal dysplasia (FMD) type 2 is an autosomal dominant disorder characterized by skeletal abnormalities and caused by MAP3K7 mutation. We identified a novel missense mutation in TAB2 associated with FMD in a child with multiple congenital malformations. This case was diagnosed as FMD due to joint contractures and bone deformities. This is the third report of FMD caused by a TAB2 mutation located in the TAK1-binding region.https://doi.org/10.1038/s41439-021-00166-6 |
| spellingShingle | Asuka Hori Ohsuke Migita Rika Kawaguchi-Kawata Yoko Narumi-Kishimoto Fumio Takada Kenichiro Hata A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia Human Genome Variation |
| title | A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia |
| title_full | A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia |
| title_fullStr | A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia |
| title_full_unstemmed | A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia |
| title_short | A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia |
| title_sort | novel tab2 mutation detected in a putative case of frontometaphyseal dysplasia |
| url | https://doi.org/10.1038/s41439-021-00166-6 |
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