Publication: The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations
The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations
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van Woerden, G. M., Senden, R., de Konink, C., Trezza, R. A., Baban, A., Bassetti, J. A., van Bever, Y., Bird, L. M., van Bon, B. W., Brooks, A. S., Guan, Q., Klee, E. W., Marcelis, C., Rosado, J. M., Schimmenti, L. A., Shikany, A. R., Terhal, P. A., Nicole Weaver, K., Wessels, M. W., … Demirdas, S. (2022). The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations. Human Mutation, 43(10), 1377–1395. https://doi.org/10.1002/humu.24425
Abstract
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Mitogen-Activated Protein 3 Kinase 7 (MAP3K7) encodes the ubiquitously expressed transforming growth factor β (TGF-β)-activated kinase 1 (TAK1), which plays a crucial role in many cellular processes. Mutationsin the MAP3K7 gene have been linked to 2 distinct disorders: frontometaphyseal dysplasia type 2 (FMD2) and cardiospondylocarpofacial syndrome (CSCF).
The fact that different mutations can induce 2 distinct phenotypes suggests a phenotype/genotype correlation, but no side-by-side comparison has been done thus far to confirm this
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van Woerden, G. M., Senden, R., de Konink, C., Trezza, R. A., Baban, A., Bassetti, J. A., van Bever, Y., Bird, L. M., van Bon, B. W., Brooks, A. S., Guan, Q., Klee, E. W., Marcelis, C., Rosado, J. M., Schimmenti, L. A., Shikany, A. R., Terhal, P. A., Nicole Weaver, K., Wessels, M. W., … Demirdas, S. (2022). The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations. Human Mutation, 43(10), 1377–1395. https://doi.org/10.1002/humu.24425
