PMID: 9182828Jun 1, 1997Paper

A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa

The Journal of Investigative Dermatology
J Y LeeJouni Uitto

Abstract

Epidermolysis bullosa pruriginosa is a recently recognized variant of dystrophic epidermolysis bullosa (DEB) characterized by severe pruritus and scarring, mainly involving the extensors of the extremities. In this study, we searched for mutations in the type VII collagen gene (COL7A1) using polymerase chain reaction amplification of exonic segments of COL7A1, followed by heteroduplex analysis, in a Chinese pedigree with dominant DEB displaying a striking anastomosing network of lichenoid papules and scarring. The study revealed a G-to-A transition at nucleotide 6724 within exon 85 of COL7A1, converting a glycine to an arginine (G2242R) within the triple-helical domain of the type VII collagen in affected individuals. These findings demonstrate that EB pruriginosa in this family is a clinical variant of dominant DEB.

References

Sep 1, 1992·The Journal of Clinical Investigation·A HovnanianM Goossens
May 11, 1989·Nucleic Acids Research·A HaliassosA Kitzis
Apr 26, 1994·Proceedings of the National Academy of Sciences of the United States of America·A M ChristianoJ Uitto
Jun 1, 1996·The Journal of Investigative Dermatology·A M ChristianoJ Uitto

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Citations

May 8, 1999·Clinical and Experimental Dermatology·J E Mellerio
Jul 17, 2018·International Journal of Dermatology·Arti NandaJohn A McGrath
Apr 16, 2002·Clinical and Experimental Dermatology·S MatsubaH Ogawa
Apr 30, 2004·Clinical and Experimental Dermatology·G S ChuangA M Christiano
Jun 21, 2008·The British Journal of Dermatology·H SchumannL Bruckner-Tuderman
Jan 8, 2008·Clinical and Experimental Dermatology·J D FernandesR Romiti
Jun 3, 2009·Clinical and Experimental Dermatology·B-J Shi, J Feng
Nov 18, 2003·The British Journal of Dermatology·R MallipeddiJ A McGrath
Jun 20, 2017·Frontiers in Pharmacology·Xinliang ZhaoNanbert Zhong
Nov 26, 1998·JPEN. Journal of Parenteral and Enteral Nutrition·J C Hall
Oct 6, 2018·Clinical and Experimental Dermatology·N MorimotoK Ohnishi
Feb 19, 2015·American Journal of Clinical Dermatology·Whan B KimElena Pope

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