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Gene Review

RSPO4  -  R-spondin 4

Homo sapiens

Synonyms: C20orf182, CRISTIN4, R-spondin-4, Roof plate-specific spondin-4, dJ824F16.3, ...
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High impact information on RSPO4

  • After determining linkage to chromosome 20p13, we identified homozygous or compound heterozygous mutations in the gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, in eight affected families [1].
  • Analysis of the RSPO4 gene within this interval revealed a frameshift and a nonconservative missense mutation in exon 2 affecting the highly conserved first furin-like cysteine-rich domain [2].


  1. The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Blaydon, D.C., Ishii, Y., O'toole, E.A., Unsworth, H.C., Teh, M.T., R??schendorf, F., Sinclair, C., Hopsu-Havu, V.K., Tidman, N., Moss, C., Watson, R., de Berker, D., Wajid, M., Christiano, A.M., Kelsell, D.P. Nat. Genet. (2006) [Pubmed]
  2. Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia. Bergmann, C., Senderek, J., Anhuf, D., Thiel, C.T., Ekici, A.B., Poblete-Gutierrez, P., van Steensel, M., Seelow, D., N??rnberg, G., Schild, H.H., N??rnberg, P., Reis, A., Frank, J., Zerres, K. Am. J. Hum. Genet. (2006) [Pubmed]
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