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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Coffin-Lowry Syndrome

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Disease relevance of Coffin-Lowry Syndrome


High impact information on Coffin-Lowry Syndrome


Chemical compound and disease context of Coffin-Lowry Syndrome


Biological context of Coffin-Lowry Syndrome


Gene context of Coffin-Lowry Syndrome

  • The malfunctioning of this system leads to a variety of disorders, ranging from neurological disorders such as Coffin-Lowry syndrome (RSK2 mutations) to cancer (c-fos mutations) [17].
  • Three candidate genes in this region were investigated: the cDNA for kinase Rsk-2 involved in Coffin-Lowry syndrome, the brain-specific exon of a transcript in the DMD locus (DP140 isoform of dystrophin), and exon 18 of the glycerol kinase gene, which is specific to fetal brain transcripts [18].
  • RSK2 is involved in Coffin-Lowry syndrome and nonspecific MRX [19].
  • We report on 7 patients (6 M, 1 F) with Coffin-Lowry syndrome who have a sensorineural hearing deficit in addition to developmental delay and characteristic facial changes [4].
  • Two other MRX disorders and two syndromal mental retardations, Coffin-Lowry syndrome and Partington syndrome, have been mapped to this region [20].


  1. Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene. Biancalana, V., Trivier, E., Weber, C., Weissenbach, J., Rowe, P.S., O'Riordan, J.L., Partington, M.W., Heyberger, S., Oudet, C., Hanauer, A. Genomics (1994) [Pubmed]
  2. X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1). Jacquot, S., Zeniou, M., Touraine, R., Hanauer, A. Eur. J. Hum. Genet. (2002) [Pubmed]
  3. Learning, memory, and transcription factors. Johnston, M.V., Alemi, L., Harum, K.H. Pediatr. Res. (2003) [Pubmed]
  4. Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations. Hartsfield, J.K., Hall, B.D., Grix, A.W., Kousseff, B.G., Salazar, J.F., Haufe, S.M. Am. J. Med. Genet. (1993) [Pubmed]
  5. Clinical disorders of brain plasticity. Johnston, M.V. Brain Dev. (2004) [Pubmed]
  6. ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome. Yang, X., Matsuda, K., Bialek, P., Jacquot, S., Masuoka, H.C., Schinke, T., Li, L., Brancorsini, S., Sassone-Corsi, P., Townes, T.M., Hanauer, A., Karsenty, G. Cell (2004) [Pubmed]
  7. Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., Zackai, E., Young, I., Mandel, J.L., Sassone-Corsi, P., Hanauer, A. Nature (1996) [Pubmed]
  8. Requirement of Rsk-2 for epidermal growth factor-activated phosphorylation of histone H3. Sassone-Corsi, P., Mizzen, C.A., Cheung, P., Crosio, C., Monaco, L., Jacquot, S., Hanauer, A., Allis, C.D. Science (1999) [Pubmed]
  9. Activation of JNK1, RSK2, and MSK1 is involved in serine 112 phosphorylation of Bad by ultraviolet B radiation. She, Q.B., Ma, W.Y., Zhong, S., Dong, Z. J. Biol. Chem. (2002) [Pubmed]
  10. Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS). Abidi, F., Jacquot, S., Lassiter, C., Trivier, E., Hanauer, A., Schwartz, C.E. Eur. J. Hum. Genet. (1999) [Pubmed]
  11. Abnormal proteodermatan sulfate in three patients with Coffin-Lowry syndrome. Beck, M., Glössl, J., Rüter, R., Kresse, H. Pediatr. Res. (1983) [Pubmed]
  12. Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam. Nakamura, M., Yamagata, T., Momoi, M.Y., Yamazaki, T. Pediatric neurology. (1998) [Pubmed]
  13. Expression of the RSK2 gene during early human development. Guimiot, F., Delezoide, A.L., Hanauer, A., Simonneau, M. Gene Expr. Patterns (2004) [Pubmed]
  14. Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome. Zeniou, M., Pannetier, S., Fryns, J.P., Hanauer, A. Am. J. Hum. Genet. (2002) [Pubmed]
  15. Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. Manouvrier-Hanu, S., Amiel, J., Jacquot, S., Merienne, K., Moerman, A., Coëslier, A., Labarriere, F., Vallée, L., Croquette, M.F., Hanauer, A. J. Med. Genet. (1999) [Pubmed]
  16. High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes. Van de Vosse, E., Van der Bent, P., Heus, J.J., Van Ommen, G.J., Den Dunnen, J.T. Mamm. Genome (1997) [Pubmed]
  17. Kinetic analysis of RSK2 and Elk-1 interaction on the serum response element and implications for cellular engineering. Aksan Kurnaz, I. Biotechnol. Bioeng. (2004) [Pubmed]
  18. Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family. Ronce, N., Raynaud, M., Toutain, A., Moizard, M.P., Colleaux, L., Gendrot, C., Briault, S., Moraine, C. Am. J. Med. Genet. (1999) [Pubmed]
  19. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Yntema, H.G., van den Helm, B., Kissing, J., van Duijnhoven, G., Poppelaars, F., Chelly, J., Moraine, C., Fryns, J.P., Hamel, B.C., Heilbronner, H., Pander, H.J., Brunner, H.G., Ropers, H.H., Cremers, F.P., van Bokhoven, H. Genomics (1999) [Pubmed]
  20. Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22. Donnelly, A.J., Choo, K.H., Kozman, H.M., Gedeon, A.K., Danks, D.M., Mulley, J.C. Am. J. Med. Genet. (1994) [Pubmed]
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