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.

日本語要旨:

セントロメアタンパク質CENP-Bはジンクフィンガー型転写調節因子ZFATのセントロメアでの局在の確立に寄与し、ncRNAの転写を制御していると報告