Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1

V. Wessagowit, G. H.S. Ashton, R. Mohammedi, J. C. Salas-Alanis, J. E. Denyer, J. E. Mellerio, R. A.J. Eady, J. A. McGrath

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Abstract

In the absence of a positive family history, it is often difficult to determine whether a single case of mild-to-moderately severe dystrophic epidermolysis bullosa (DEB) represents autosomal recessive or de novo dominant disease. Recent molecular analyses of the type VII collagen gene, COL7A1, have established that the vast majority of such cases are recessive in nature. Nevertheless, a small number of de novo dominant patients have been documented. In this report, we describe three further examples of de novo dominant disease. In each case the COL7A1 mutation comprised the same glycine substitution, G2043R. This mutation has previously been reported in both dominant DEB pedigrees and as a de novo phenomenon and is the most common COL7A1 mutation in dominant DEB throughout the world. These cases emphasize the importance of molecular analysis in providing accurate genetic counselling in this genodermatosis.
Original languageEnglish
Pages (from-to)97-99
Number of pages3
JournalClinical and Experimental Dermatology
DOIs
Publication statusPublished - 21 Mar 2001
Externally publishedYes

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Epidermolysis Bullosa Dystrophica
Mutation
Collagen Type VII
Genetic Counseling
Pedigree
Glycine
Genes

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

Wessagowit, V., Ashton, G. H. S., Mohammedi, R., Salas-Alanis, J. C., Denyer, J. E., Mellerio, J. E., ... McGrath, J. A. (2001). Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1. Clinical and Experimental Dermatology, 97-99. https://doi.org/10.1046/j.1365-2230.2001.00769.x
Wessagowit, V. ; Ashton, G. H.S. ; Mohammedi, R. ; Salas-Alanis, J. C. ; Denyer, J. E. ; Mellerio, J. E. ; Eady, R. A.J. ; McGrath, J. A. / Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1. In: Clinical and Experimental Dermatology. 2001 ; pp. 97-99.
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Wessagowit, V, Ashton, GHS, Mohammedi, R, Salas-Alanis, JC, Denyer, JE, Mellerio, JE, Eady, RAJ & McGrath, JA 2001, 'Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1', Clinical and Experimental Dermatology, pp. 97-99. https://doi.org/10.1046/j.1365-2230.2001.00769.x

Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1. / Wessagowit, V.; Ashton, G. H.S.; Mohammedi, R.; Salas-Alanis, J. C.; Denyer, J. E.; Mellerio, J. E.; Eady, R. A.J.; McGrath, J. A.

In: Clinical and Experimental Dermatology, 21.03.2001, p. 97-99.

Research output: Contribution to journalArticle

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AB - In the absence of a positive family history, it is often difficult to determine whether a single case of mild-to-moderately severe dystrophic epidermolysis bullosa (DEB) represents autosomal recessive or de novo dominant disease. Recent molecular analyses of the type VII collagen gene, COL7A1, have established that the vast majority of such cases are recessive in nature. Nevertheless, a small number of de novo dominant patients have been documented. In this report, we describe three further examples of de novo dominant disease. In each case the COL7A1 mutation comprised the same glycine substitution, G2043R. This mutation has previously been reported in both dominant DEB pedigrees and as a de novo phenomenon and is the most common COL7A1 mutation in dominant DEB throughout the world. These cases emphasize the importance of molecular analysis in providing accurate genetic counselling in this genodermatosis.

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