2. Academic Validation
  3. The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

  • Nat Genet. 2006 Nov;38(11):1245-7. doi: 10.1038/ng1883.
Diana C Blaydon 1,  Yoshiyuki Ishii,  Edel A O'Toole,  Harriet C Unsworth,  Muy-Teck Teh,  Franz Rüschendorf,  Claire Sinclair,  Väinö K Hopsu-Havu,  Nicholas Tidman,  Celia Moss,  Rosemarie Watson,  David de Berker,  Muhammad Wajid,  Angela M Christiano,  David P Kelsell
Affiliations

Affiliation

  • 1 Centre for Cutaneous Research, Institute of Cell & Molecular Science, Queen Mary's School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London E1 4AT, UK.
PMID: 17041604 DOI: 10.1038/ng1883
Abstract

Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype is the absence or severe hypoplasia of all fingernails and toenails. 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. Rspo4 expression was specifically localized to developing mouse nail mesenchyme at embryonic day 15.5, suggesting a crucial role in nail morphogenesis.

Figures