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Article

Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7.

European journal of medical genetics - 1 Oct 2018

Costantini Alice, Wallgren-Pettersson Carina, Mäkitie Outi

Abstract excerpt

Frontometaphyseal dysplasia 2 (FMD2) is a skeletal dysplasia with supraorbital hyperostosis combined with undermodeling of the bones, joint contractures and some extraskeletal features. It is caused by heterozygous mutations in MAP3K7, encoding the Mitogen-Activated Protein 3-Kinase 7. MAP3K7 is activated by TGF-β and plays an important role in osteogenesis. Less than 20 patients with FMD2 and MAP3K7 mutations...

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PMID: 29660408
DOI: 10.1016/j.ejmg.2018.04.004

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