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

Asuka Hori; Ohsuke Migita; Rika Kawaguchi-Kawata; Yoko Narumi-Kishimoto; Fumio Takada; Kenichiro Hata

doi:10.1038/s41439-021-00166-6

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

Hum Genome Var. 2021 Oct 29;8(1):40. doi: 10.1038/s41439-021-00166-6.

Authors

Asuka Hori^{1

2

3}, Ohsuke Migita^{3

4}, Rika Kawaguchi-Kawata^{1

2}, Yoko Narumi-Kishimoto³, Fumio Takada^{1

2}, Kenichiro Hata⁵

Affiliations

¹ Department of Medical Genetics and Genomics, the Kitasato University Graduate School of Medical Sciences, Kanagawa, Japan.
² Department of Genetics and Genomics, the Kitasato University Hospital, Kanagawa, Japan.
³ Department of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
⁴ Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.
⁵ Department of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Tokyo, Japan. hata-k@ncchd.go.jp.

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.

Abstract

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