A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

Angela M. Christiano, Daniel S. Greenspan, Guy G. Hoffman, Xin Zhang, Yoshiko Tamai, Andrew N. Lin, Harry C. Dietz, Alain Hovnanian, Jouni Uitto

Research output: Contribution to journalArticlepeer-review

Abstract

Recessive dystrophic epidermolysis bullosa is a severe mutilating genodermatosis. Previous ultrastructural demonstrations of altered anchoring fibrils, and recent genetic linkage analyses have suggested that type VII collagen, the major component of anchoring fibrils, is a candidate gene. We have identified a homozygous methionine–to–lysine mutation in two affected siblings, while their unaffected mother and half–brother are heterozygous carriers. The mutation resides in a highly conserved region of the C–terminus of type VII collagen, strongly suggesting that it is the cause of the disease in this family.

Original languageEnglish (US)
Pages (from-to)62-66
Number of pages5
JournalNature genetics
Volume4
Issue number1
DOIs
StatePublished - May 1993

ASJC Scopus subject areas

  • Genetics

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