Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing

Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation... Pretibial epidermolysis bullosa (PEB) is a rare form of localized epidermolysis bullosa dystrophica (EBD), a heterogeneous group of inherited, blistering diseases characterized by scarring, loss of dermal–epidermal adhesion and altered anchoring fibrils (AF). Mutations in the type VII collagen gene (COL7A1) underlie EBD and in a dominant PEB family a glycine substitution mutation has been identified. We report a 33‐year‐old man affected by PEB showing abnormal AF and reduced immunostaining for type VII collagen. Mutation search in the COL7A1 gene revealed a 14 bp deletion in the 115 exon–intron boundary (33563del14), which resulted in the in‐frame skipping of exon 115 with elimination of 29 amino acids from the pro‐α1(VII) polypeptide chain. As a consequence, procollagen VII failed to be processed to mature collagen VII and accumulated at the dermal–epidermal junction, as revealed by immunofluorescence staining using a NC‐2 domain‐specific antibody. The proband’s father was a clinically unaffected heterozygous carrier of mutation 33563del14, whereas the maternal pathogenetic mutation has still not been identified. This represents the first report of a recessive deletion mutation in PEB and extends the range of EBD phenotypes associated with mutation 33563del14. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png British Journal of Dermatology Wiley

Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing

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Publisher
Wiley
Copyright
Copyright © 1999 Wiley Subscription Services, Inc., A Wiley Company
ISSN
0007-0963
eISSN
1365-2133
DOI
10.1046/j.1365-2133.1999.03155.x
Publisher site
See Article on Publisher Site

Abstract

Pretibial epidermolysis bullosa (PEB) is a rare form of localized epidermolysis bullosa dystrophica (EBD), a heterogeneous group of inherited, blistering diseases characterized by scarring, loss of dermal–epidermal adhesion and altered anchoring fibrils (AF). Mutations in the type VII collagen gene (COL7A1) underlie EBD and in a dominant PEB family a glycine substitution mutation has been identified. We report a 33‐year‐old man affected by PEB showing abnormal AF and reduced immunostaining for type VII collagen. Mutation search in the COL7A1 gene revealed a 14 bp deletion in the 115 exon–intron boundary (33563del14), which resulted in the in‐frame skipping of exon 115 with elimination of 29 amino acids from the pro‐α1(VII) polypeptide chain. As a consequence, procollagen VII failed to be processed to mature collagen VII and accumulated at the dermal–epidermal junction, as revealed by immunofluorescence staining using a NC‐2 domain‐specific antibody. The proband’s father was a clinically unaffected heterozygous carrier of mutation 33563del14, whereas the maternal pathogenetic mutation has still not been identified. This represents the first report of a recessive deletion mutation in PEB and extends the range of EBD phenotypes associated with mutation 33563del14.

Journal

British Journal of DermatologyWiley

Published: Nov 1, 1999

References

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