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Brief Communication

Nature Genetics 38, 1245–1247 (1 November 2006) | doi:10.1038/ng1883

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

Diana C Blaydon , Yoshiyuki Ishii , Edel A O'Toole , Harriet C Unsworth , Muy-Teck Teh , Franz R|[uuml]|schendorf , Claire Sinclair , V|[auml]|in|[ouml]| K Hopsu-Havu , Nicholas Tidman , Celia Moss , Rosemarie Watson , David de Berker , Muhammad Wajid , Angela M Christiano & David P Kelsell

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.