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Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency
Author(s) -
Horev L.,
Waran Lalin T.,
MartinezMir A.,
Bagheri B. A.,
TadinStrapps M.,
Schneiderman P. I.,
Grossman M. E.,
Bickers D. R.,
Christiano A. M.
Publication year - 2003
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1046/j.1365-2230.2003.01190.x
Subject(s) - proband , epidermolysis bullosa , medicine , gene duplication , mutation , genetics , splice site mutation , epidermolysis bullosa dystrophica , dermatology , gene , pathology , biology , exon , alternative splicing
Summary We report the clinical and molecular findings in a patient with a mild form of recessive dystrophic epidermolysis bullosa and aortic insufficiency. To our knowledge, this is the first report of association between dystrophic epidermolysis bullosa and abnormalities of the aortic valve. Analysis of the COL7A1 gene has revealed two new mutations, a 20‐bp duplication and a splice site mutation.