Communication

Journal of Investigative Dermatology (1996) 106, 1340–1342; doi:10.1111/1523-1747.ep12349293

Genetic Basis of Bart's Syndrome: A glycine Substitution Mutation in the Type VII Collagen Gene

Angela M Christiano1, Bruce J Bart2, Ervin H Epstein Jr3 and Jouni Uitto1,4

  1. 1Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania, U.S.A.
  2. 2Department of Biochemistry and Molecular Biology, Jefferson Medical College, Philadelphia, Pennsylvania, U.S.A.
  3. 3Hennepin County Medical Center, Minneapolis, Minnesota, U.S.A.
  4. 4Department of Dermatology, University of California, San Francisco, California, U.S.A.

Received 27 September 1995; Revised 3 November 1995; Accepted 8 November 1995.

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Abstract

Bart's syndrome was initially described as a genodermatosis characterized by congenital localized absence of the skin, together with blistering and nail abnormalities. Recent analysis of Bart's original kindred demonstrated ultrastructural abnormalities in the anchoring fibrils and linkage of the inheritance of the disease to the region of chromosome 3 near the type VII collagen gene (COL7A1). We have performed mutation analysis in this family by using electrophoretic heteroduplex analysis followed by direct nucleotide sequencing of DNA. These results disclosed a G-to-A transition within exon 73 of COL7A1, which results in a glycine..to-arginine substitution within the triple-helical domain of type VII collagen in affected individuals. In this family, these findings demonstrate that Bart's syndrome is a clinical variant of dominant dystrophic epidermolysis bullosa.

Keywords:

anchoring fibrils, cutaneous basement membrane zone, dominant dystrophic epidermolysis bullosa, type VII collagen gene mutations

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References

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