title: The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
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.
authors.affiliation: 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.
authors.forename: Diana C
authors.initials: DC
authors.lastname: Blaydon
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Ishii
authors.forename: Edel A
authors.initials: EA
authors.lastname: O'Toole
authors.forename: Harriet C
authors.initials: HC
authors.lastname: Unsworth
authors.forename: Muy-Teck
authors.initials: MT
authors.lastname: Teh
authors.forename: Franz
authors.initials: F
authors.lastname: Rüschendorf
authors.forename: Claire
authors.initials: C
authors.lastname: Sinclair
authors.forename: Väinö K
authors.initials: VK
authors.lastname: Hopsu-Havu
authors.forename: Nicholas
authors.initials: N
authors.lastname: Tidman
authors.forename: Celia
authors.initials: C
authors.lastname: Moss
authors.forename: Rosemarie
authors.initials: R
authors.lastname: Watson
authors.forename: David
authors.initials: D
authors.lastname: de Berker
authors.forename: Muhammad
authors.initials: M
authors.lastname: Wajid
authors.forename: Angela M
authors.initials: AM
authors.lastname: Christiano
authors.forename: David P
authors.initials: DP
authors.lastname: Kelsell
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D009154:Mutation; D009264:Nails, Malformed / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D015398:Signal Transduction; D019699:Thrombospondins / Q000235:genetics* / Q000378:metabolism; D051153:Wnt Proteins / Q000378:metabolism*; D000098907:R-Spondins
chemical_list: D019699:Thrombospondins; D051153:Wnt Proteins; C516169:RSPO4 protein, human; D000098907:R-Spondins