Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

American Journal of Human Genetics

Volumn 99, Issue 2, 2016, Pages 407-413

  Le Goff, Carine ^a   Rogers, Curtis ^b   Le Goff, Wilfried ^c   Pinto, Graziella ^d   Bonnet, Damien ^d   Chrabieh, Maya ^e   Alibeu, Olivier ^a   Nistchke, Patrick ^a   Munnich, Arnold ^a   Picard, Capucine ^d,e   Cormier Daire, Valérie ^a  

^a INSERM   (France)

^b GREENWOOD GENETIC CENTER   (United States)

^c SORBONNE UNIVERSITÉ   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e IMAGINE INSTITUTE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MAP3K7 PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE P38; TRANSFORMING GROWTH FACTOR BETA ACTIVATED KINASE 1; UNCLASSIFIED DRUG; INTERLEUKIN 1BETA; MAP KINASE KINASE KINASE 7; MITOGEN ACTIVATED PROTEIN KINASE KINASE KINASE; TRANSFORMING GROWTH FACTOR BETA;

ADOLESCENT; ADULT; ARTICLE; CARDIOSPONDYLOCARPOFACIAL SYNDROME; CHILD; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; EXOME; FAMILY; FEMALE; FIBROBLAST; GENE; GENE EXPRESSION; GENE MUTATION; GENE TARGETING; GENETIC CODE; GENETIC TRANSCRIPTION; HETEROZYGOTE; HUMAN; INFLAMMATION; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; YOUNG ADULT; ABNORMALITIES; CARPAL BONE; CERVICAL VERTEBRA; CONDUCTION DEAFNESS; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; MITRAL VALVE REGURGITATION; MUTATION; SYNDROME; TARSAL BONE;

ADOLESCENT; ADULT; CARPAL BONES; CERVICAL VERTEBRAE; CHILD; CHILD, PRESCHOOL; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION; HEARING LOSS, CONDUCTIVE; HETEROZYGOTE; HUMANS; INTERLEUKIN-1BETA; MALE; MAP KINASE KINASE KINASES; MAP KINASE SIGNALING SYSTEM; MITRAL VALVE INSUFFICIENCY; MUTATION; P38 MITOGEN-ACTIVATED PROTEIN KINASES; SYNDROME; TARSAL BONES; TRANSFORMING GROWTH FACTOR BETA; YOUNG ADULT;

EID: 84978803208     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.06.005     Document Type: Article

References (17)

1. 1 Sousa, S.B., Baujat, G., Abadie, V., Bonnet, D., Sidi, D., Munnich, A., Krakow, D., Cormier-Daire, V., Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)—a distinct syndrome?. Am. J. Med. Genet. A. 152A (2010), 539–546.
2. 2 Yamaguchi, K., Shirakabe, K., Shibuya, H., Irie, K., Oishi, I., Ueno, N., Taniguchi, T., Nishida, E., Matsumoto, K., Identification of a member of the MAPKKK family as a potential mediator of TGF-beta signal transduction. Science 270 (1995), 2008–2011.
3. 3 Takaesu, G., Kishida, S., Hiyama, A., Yamaguchi, K., Shibuya, H., Irie, K., Ninomiya-Tsuji, J., Matsumoto, K., TAB2, a novel adaptor protein, mediates activation of TAK1 MAPKKK by linking TAK1 to TRAF6 in the IL-1 signal transduction pathway. Mol. Cell 5 (2000), 649–658.
4. 4 Scholz, R., Sidler, C.L., Thali, R.F., Winssinger, N., Cheung, P.C., Neumann, D., Autoactivation of transforming growth factor beta-activated kinase 1 is a sequential bimolecular process. J. Biol. Chem. 285 (2010), 25753–25766.
5. 5 Delaney, J.R., Mlodzik, M., TGF-beta activated kinase-1: new insights into the diverse roles of TAK1 in development and immunity. Cell Cycle 5 (2006), 2852–2855.
6. 6 Sato, S., Sanjo, H., Takeda, K., Ninomiya-Tsuji, J., Yamamoto, M., Kawai, T., Matsumoto, K., Takeuchi, O., Akira, S., Essential function for the kinase TAK1 in innate and adaptive immune responses. Nat. Immunol. 6 (2005), 1087–1095.
7. 7 Gunnell, L.M., Jonason, J.H., Loiselle, A.E., Kohn, A., Schwarz, E.M., Hilton, M.J., O'Keefe, R.J., TAK1 regulates cartilage and joint development via the MAPK and BMP signaling pathways. J. Bone Miner. Res. 25 (2010), 1784–1797.
8. 8 Greenblatt, M.B., Shim, J.H., Zou, W., Sitara, D., Schweitzer, M., Hu, D., Lotinun, S., Sano, Y., Baron, R., Park, J.M., et al. The p38 MAPK pathway is essential for skeletogenesis and bone homeostasis in mice. J. Clin. Invest. 120 (2010), 2457–2473.
9. 9 Ninomiya-Tsuji, J., Kajino, T., Ono, K., Ohtomo, T., Matsumoto, M., Shiina, M., Mihara, M., Tsuchiya, M., Matsumoto, K., A resorcylic acid lactone, 5Z-7-oxozeaenol, prevents inflammation by inhibiting the catalytic activity of TAK1 MAPK kinase kinase. J. Biol. Chem. 278 (2003), 18485–18490.
10. 10 Gao, L., Sheu, T.J., Dong, Y., Hoak, D.M., Zuscik, M.J., Schwarz, E.M., Hilton, M.J., O'Keefe, R.J., Jonason, J.H., TAK1 regulates SOX9 expression in chondrocytes and is essential for postnatal development of the growth plate and articular cartilages. J. Cell Sci. 126 (2013), 5704–5713.
11. 11 Liu, W., Chang, B.L., Cramer, S., Koty, P.P., Li, T., Sun, J., Turner, A.R., Von Kap-Herr, C., Bobby, P., Rao, J., et al. Deletion of a small consensus region at 6q15, including the MAP3K7 gene, is significantly associated with high-grade prostate cancers. Clin. Cancer Res. 13 (2007), 5028–5033.
12. 12 Inokuchi, S., Aoyama, T., Miura, K., Osterreicher, C.H., Kodama, Y., Miyai, K., Akira, S., Brenner, D.A., Seki, E., Disruption of TAK1 in hepatocytes causes hepatic injury, inflammation, fibrosis, and carcinogenesis. Proc. Natl. Acad. Sci. USA 107 (2010), 844–849.
13. 13 Compagno, M., Lim, W.K., Grunn, A., Nandula, S.V., Brahmachary, M., Shen, Q., Bertoni, F., Ponzoni, M., Scandurra, M., Califano, A., et al. Mutations of multiple genes cause deregulation of NF-kappaB in diffuse large B-cell lymphoma. Nature 459 (2009), 717–721.
14. 14 Buglio, D., Palakurthi, S., Byth, K., Vega, F., Toader, D., Saeh, J., Neelapu, S.S., Younes, A., Essential role of TAK1 in regulating mantle cell lymphoma survival. Blood 120 (2012), 347–355.
15. 15 Gu, J., Liu, X., Wang, Q.X., Tan, H.W., Guo, M., Jiang, W.F., Zhou, L., Angiotensin II increases CTGF expression via MAPKs/TGF-β1/TRAF6 pathway in atrial fibroblasts. Exp. Cell Res. 318 (2012), 2105–2115.
16. 16 Jung, S.M., Lee, J.H., Park, J., Oh, Y.S., Lee, S.K., Park, J.S., Lee, Y.S., Kim, J.H., Lee, J.Y., Bae, Y.S., et al. Smad6 inhibits non-canonical TGF-β1 signalling by recruiting the deubiquitinase A20 to TRAF6. Nat. Commun., 4, 2013, 2562.
17. 17 Klein, O.D., Cotter, P.D., Moore, M.W., Zanko, A., Gilats, M., Epstein, C.J., Conte, F., Rauen, K.A., Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH. Clin. Genet. 71 (2007), 260–266.