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Nat Genet. 2003 Jun;34(2):151-3.

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

Author information

  • 1Danek 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.

PMID:
12754508
[PubMed - indexed for MEDLINE]
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