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#