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

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

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Child
  • Chromosomes, Human, Pair 6 / genetics
  • Codon, Nonsense*
  • DNA / genetics
  • Genetic Linkage
  • Glycoproteins / chemistry
  • Glycoproteins / deficiency
  • Glycoproteins / genetics*
  • Hair Follicle / metabolism
  • Humans
  • Hypotrichosis / genetics*
  • Hypotrichosis / metabolism
  • Hypotrichosis / pathology
  • Immunohistochemistry
  • Intercellular Signaling Peptides and Proteins
  • Male
  • Molecular Sequence Data
  • Scalp / metabolism
  • Scalp / pathology

Substances

  • CDSN protein, human
  • Codon, Nonsense
  • Glycoproteins
  • Intercellular Signaling Peptides and Proteins
  • DNA

Associated data

  • GENBANK/AB023060
  • GENBANK/AF030130
  • SWISSPROT/Q15517