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

Resultado de la investigación

15 Citas (Scopus)

Resumen

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.
Idioma originalEnglish
Páginas (desde-hasta)97-99
Número de páginas3
PublicaciónClinical and Experimental Dermatology
DOI
EstadoPublished - 21 mar 2001
Publicado de forma externa

    Huella digital

All Science Journal Classification (ASJC) codes

  • Dermatology

Citar esto

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. (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