A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia

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...

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Autores principales: Hori, Asuka, Migita, Ohsuke, Kawaguchi-Kawata, Rika, Narumi-Kishimoto, Yoko, Takada, Fumio, Hata, Kenichiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8556374/
https://www.ncbi.nlm.nih.gov/pubmed/34716296
http://dx.doi.org/10.1038/s41439-021-00166-6
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author Hori, Asuka
Migita, Ohsuke
Kawaguchi-Kawata, Rika
Narumi-Kishimoto, Yoko
Takada, Fumio
Hata, Kenichiro
author_facet Hori, Asuka
Migita, Ohsuke
Kawaguchi-Kawata, Rika
Narumi-Kishimoto, Yoko
Takada, Fumio
Hata, Kenichiro
author_sort Hori, Asuka
collection PubMed
description 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.
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spelling pubmed-85563742021-11-15 A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia Hori, Asuka Migita, Ohsuke Kawaguchi-Kawata, Rika Narumi-Kishimoto, Yoko Takada, Fumio Hata, Kenichiro Hum Genome Var Data Report 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. Nature Publishing Group UK 2021-10-29 /pmc/articles/PMC8556374/ /pubmed/34716296 http://dx.doi.org/10.1038/s41439-021-00166-6 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Hori, Asuka
Migita, Ohsuke
Kawaguchi-Kawata, Rika
Narumi-Kishimoto, Yoko
Takada, Fumio
Hata, Kenichiro
A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia
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
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8556374/
https://www.ncbi.nlm.nih.gov/pubmed/34716296
http://dx.doi.org/10.1038/s41439-021-00166-6
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