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.
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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.
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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
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DOI: https://doi.org/10.1038/ng1163
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