Abstract
We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Toribio, J. & Quiñones, P.A. Br. J. Dermatol. 91, 687–696 (1974).
Kohn, G. & Metzker, A. Clin. Genet. 32, 120–124 (1987).
Ibsen, H.H., Clemmensen, O.J. & Brandrup, F. Acta. Derm. Venereol. 71, 349–351 (1991).
Rodríguez Díaz, E., Férnandez Blasco, G., Martín Pascual, A. & Armijo, M. Dermatology 191, 139–141 (1995).
Betz, R.C. et al. Am. J. Hum. Genet. 66, 1979–1983 (2000).
Guerrin, M. et al. J. Biol. Chem. 273, 22640–22647 (1998).
Trembath, R.C. et al. Hum. Mol. Genet. 6, 813–820 (1997).
Capon, F., Munro, M., Barker, J. & Trembath, R. J. Invest. Dermatol. 118, 745–751 (2002).
Jonca, N. et al. J. Biol. Chem. 277, 5024–5029 (2002).
Simon, M., Montézin, M., Guerrin, M., Durieux, J.J. & Serre, G. J. Biol. Chem. 272, 31770–31776 (1997)
Simon, M. et al. J. Biol. Chem. 276, 20292–20299 (2001).
Serre, G. et al. J. Invest. Dermatol. 97, 1061–1072 (1991).
Mils, V., Vincent, C., Croute, F. & Serre, G. J. Histochem. Cytochem. 40, 1329–1337 (1992).
Walsh, D.M. et al. Nature 416, 535–539 (2002).
Bucciantini, M. et al. Nature 416, 507–511 (2002).
Acknowledgements
We thank all the affected individuals and their families for participation in our study and A. Metzker, T. Olender, N. Avidan, E. Ben-Asher, D. Lancet, T. Thederahn, K. B. Avraham, F. Brandrup, P. Propping, A. I. Bernal, G. M. Kukuk, M.-F. Isaïa, M.-P. Henry and C. Pons for their assistance and helpful discussions. This work was done in partial fulfillment of the requirements for Ph.D. degree of E.L.-N. The work was supported in part by WELLA AG (E.P.), by grants from INSERM and from the University of Toulouse III (G.S.) and by a grant from the Deutsche Forschungsgemeinschaft research group 'Keratinocytes—proliferation and differentiation in the epidermis' (M.M.N.). R.C.B. was supported by a postdoctoral fellowship from the Deutsche Forschungsgemeinschaft and the Fund for Scientific Research-Flanders.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no competing financial interests.
Rights and permissions
About this article
Cite this article
Levy-Nissenbaum, E., Betz, R., Frydman, M. et al. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet 34, 151–153 (2003). https://doi.org/10.1038/ng1163
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/ng1163
This article is cited by
-
Whole-genome sequencing reveals insights into the adaptation of French Charolais cattle to Cuban tropical conditions
Genetics Selection Evolution (2021)
-
Extensive Mendelian randomization study identifies potential causal risk factors for severe COVID-19
Communications Medicine (2021)
-
Application of topical gentamicin—a new era in the treatment of genodermatosis
World Journal of Pediatrics (2021)
-
Alopezien und Hypotrichosen im Kindesalter: Wann muss an genetische Diagnostik gedacht werden?
Monatsschrift Kinderheilkunde (2021)
-
Revolutionäre pränatale Therapie
Der Deutsche Dermatologe (2019)