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hair genetic diseases

Sunday 5 February 2006

Over the last eight years, several naturally occurring human gene mutations in structural components of desmosomes, cell-cell adhesion junctions found in skin, heart and meninges, have been reported.

Etiology

- dominant or recessive mutations in

  • plakophilin-1 (PKP1)
  • plakophilin-2 (PKP2)
  • desmoplakin (DSP)
  • desmoglein-1 (DSG1)
  • desmoglein-4 (DSG4)
  • plakoglobin (JUP)
  • corneodesmosin (CDSN)

See also

- desmosomes

  • desmosomal proteins

References

- McGrath JA, Wessagowit V. Human hair abnormalities resulting from inherited desmosome gene mutations. Keio J Med. 2005 Jun;54(2):72-9. PMID: #16077256#

- van Steensel MA, van Geel M, Steijlen PM. Molecular genetics of hereditary hair and nail disease. Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):52-60. PMID: #15468149#