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

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Costantini , A , Wallgren-Pettersson , C & Mäkitie , O 2018 , ' Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7 ' , European Journal of Medical Genetics , vol. 61 , no. 10 , pp. 612-615 . https://doi.org/10.1016/j.ejmg.2018.04.004

Title: Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7
Author: Costantini, Alice; Wallgren-Pettersson, Carina; Mäkitie, Outi
Contributor: University of Helsinki, Medicum
University of Helsinki, Clinicum
Date: 2018-10
Language: eng
Number of pages: 4
Belongs to series: European Journal of Medical Genetics
ISSN: 1769-7212
URI: http://hdl.handle.net/10138/300887
Abstract: 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-beta and plays an important role in osteogenesis. Less than 20 patients with FMD2 and MAP3K7 mutations have been described thus far. The majority of the patients harbor a recurrent missense mutation, NM_003188.3: c.1454C > T [NP_003179.1: p.(Pro485Leu)], which leads to a more severe phenotype than mutations in other domains. Here we describe an additional patient with FMD2 caused by the recurrent c.1454C > T MAP3K7 mutation, identified as a de novo variant by whole-genome sequencing. The 17-year-old boy has the characteristic skeletal and facial features of FMD2. However, some novel features were also observed, including growth retardation and spina bifida occulta. In line with other patients harboring the same mutation he also showed keloid scars and had no intellectual disability. This report expands the clinical spectrum of FMD2 caused by the recurrent c.1454C > T [p.(Pro485Leu)] mutation in MAP3K7.
Subject: MAP3K7
TAK1
Frontometaphyseal dysplasia 2
Skeletal dysplasia
Growth retardation
3123 Gynaecology and paediatrics
1184 Genetics, developmental biology, physiology
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