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Case Reports
. 2003 Jun;34(2):151-3.
doi: 10.1038/ng1163.

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

Etgar Levy-Nissenbaum  1 , Regina C Betz, Moshe Frydman, Michel Simon, Hadas Lahat, Tengiz Bakhan, Boleslaw Goldman, Anette Bygum, Monika Pierick, Axel M Hillmer, Nathalie Jonca, Jaime Toribio, Roland Kruse, Georg Dewald, Sven Cichon, Christian Kubisch, Marina Guerrin, Guy Serre, Markus M Nöthen, Elon Pras
Affiliations
Case Reports

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

Etgar Levy-Nissenbaum et al. Nat Genet. 2003 Jun.

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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