The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
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.
Blaydon
Diana C
DC
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.
Ishii
Yoshiyuki
Y
O'Toole
Edel A
EA
Unsworth
Harriet C
HC
Teh
Muy-Teck
MT
Rüschendorf
Franz
F
Sinclair
Claire
C
Hopsu-Havu
Väinö K
VK
Tidman
Nicholas
N
Moss
Celia
C
Watson
Rosemarie
R
de Berker
David
D
Wajid
Muhammad
M
Christiano
Angela M
AM
Kelsell
David P
DP
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
D019699:Thrombospondins; D051153:Wnt Proteins; C516169:RSPO4 protein, human; D000098907:R-Spondins