Nature Genetics
- 38, 1245 - 1247 (2006)
Published online: 15 October 2006; Corrected online: 27 November 2006 | doi:10.1038/ng1883
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychiaDiana C Blaydon1, 9, Yoshiyuki Ishii2, 9, Edel A O'Toole1, Harriet C Unsworth1, Muy-Teck Teh1, Franz Rüschendorf3, Claire Sinclair1, Väinö K Hopsu-Havu4, Nicholas Tidman5, Celia Moss6, Rosemarie Watson7, David de Berker8, Muhammad Wajid2, Angela M Christiano2 & David P Kelsell11
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. 2
Department of Dermatology and Genetics and Department of Development, Columbia University College of Physicians & Surgeons, 630 West 168th Street, New York, New York 10032, USA. 3
Department of Functional Genetics and Genomics, Max Delbrück Center for Molecular Medicine, Robert Rössle Str. 10, D-13092 Berlin, Germany. 4
Department of Dermatology, University Central Hospital, 20520 Turku 52, Finland. 5
Cancer Research UK, 44 Lincolns Inn Fields, London WC2A 3PX, UK. 6
Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK. 7
Department of Paediatric Dermatology, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland. 8
Bristol Dermatology Centre, Bristol Royal Infirmary, Bristol BS2 8HW, UK. 9
These authors contributed equally to this work.
Correspondence should be addressed to David P Kelsell d.p.kelsell@qmul.ac.uk 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.NOTE: In the version of this article initially published, the national origin of the three consanguineous families (P2–P4) was incorrectly described as Indian. The national origin of all three families (P2–P4) is Pakistani. This error has been corrected in the HTML and PDF versions of the article.
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