Hum Genome Var. 2021 Oct 29;8(1):40. doi: 10.1038/s41439-021-00166-6.
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 to joint contractures and bone deformities. This is the third report of FMD caused by a TAB2 mutation located in the TAK1-binding region.