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...

Descripción completa

Detalles Bibliográficos
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
Descripción
Sumario: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.

Ejemplares similares