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Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin |
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| Authors: | Levy-Nissenbaum Etgar Betz Regina C Frydman Moshe Simon Michel Lahat Hadas Bakhan Tengiz Goldman Boleslaw Bygum Anette Pierick Monika Hillmer Axel M Jonca Nathalie Toribio Jaime Kruse Roland Dewald Georg Cichon Sven Kubisch Christian Guerrin Marina Serre Guy Nöthen Markus M Pras Elon |
| Affiliation: | Danek Gartner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel and Tel Aviv University, Tel Aviv, Israel. |
| 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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