Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets
E.J. Nordal,
S. Mecklenbeck,
I. Hausser,
J. Skranes,
L. Bruckner-Tuderman,
T. Gedde-Dahl Jr,
E.J. Nordal
Departments of Dermatology and Paediatrics, Ullevål Hospital and University of Oslo, Oslo, Norway
Search for more papers by this authorS. Mecklenbeck
Department of Dermatology, University of Münster, Münster, Germany
Search for more papers by this authorI. Hausser
Electron Microscopic Laboratory, Department of Dermatology and Venereology, University of Heidelberg, Heidelberg, Germany
Search for more papers by this authorJ. Skranes
Departments of Dermatology and Paediatrics, Ullevål Hospital and University of Oslo, Oslo, Norway
Search for more papers by this authorL. Bruckner-Tuderman
Department of Dermatology, University of Münster, Münster, Germany
Search for more papers by this authorT. Gedde-Dahl Jr
Institute of Forensic Medicine and Dermatological DNA Laboratory, Department of Dermatology, Rikshospitalet and University of Oslo, Oslo, Norway
Search for more papers by this authorE.J. Nordal,
S. Mecklenbeck,
I. Hausser,
J. Skranes,
L. Bruckner-Tuderman,
T. Gedde-Dahl Jr,
E.J. Nordal
Departments of Dermatology and Paediatrics, Ullevål Hospital and University of Oslo, Oslo, Norway
Search for more papers by this authorS. Mecklenbeck
Department of Dermatology, University of Münster, Münster, Germany
Search for more papers by this authorI. Hausser
Electron Microscopic Laboratory, Department of Dermatology and Venereology, University of Heidelberg, Heidelberg, Germany
Search for more papers by this authorJ. Skranes
Departments of Dermatology and Paediatrics, Ullevål Hospital and University of Oslo, Oslo, Norway
Search for more papers by this authorL. Bruckner-Tuderman
Department of Dermatology, University of Münster, Münster, Germany
Search for more papers by this authorT. Gedde-Dahl Jr
Institute of Forensic Medicine and Dermatological DNA Laboratory, Department of Dermatology, Rikshospitalet and University of Oslo, Oslo, Norway
Search for more papers by this author Dr Eli Johanne Nordal. E-mail: [email protected]
Abstract
We report monozygous triplets affected with dystrophic epidermolysis bullosa (DEB). The female triplets were delivered by Caesarean section and skin fragility of each child, which was partly induced by trauma, was apparent from the third to fourth day of life. Clinically, the triplets were equally affected. Mutation analysis in this family revealed a novel recessively expressed glycine substitution, G2031S, in exon 73 of the collagen VII gene COL7A1. Most glycine substitutions in this gene region encoding for the triple helical domain of collagen VII are associated with milder, dominantly inherited phenotypes. By contrast, the novel point mutation of this study is clinically silent in the heterozygous state and leads to a severe DEB subtype when homozygous.
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