title: Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency.
abstract: 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.
authors.affiliation: Department of Dermatology, Hadassah University Medical Center, Jerusalem, Israel.
authors.forename: L
authors.initials: L
authors.lastname: Horev
authors.forename: T
authors.initials: T
authors.lastname: Waran Lalin
authors.forename: A
authors.initials: A
authors.lastname: Martinez-Mir
authors.forename: B A
authors.initials: BA
authors.lastname: Bagheri
authors.forename: M
authors.initials: M
authors.lastname: Tadin-Strapps
authors.forename: P I
authors.initials: PI
authors.lastname: Schneiderman
authors.forename: M E
authors.initials: ME
authors.lastname: Grossman
authors.forename: D R
authors.initials: DR
authors.lastname: Bickers
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D000328:Adult; D001022:Aortic Valve Insufficiency / Q000235:genetics*; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D005808:Genes, Recessive / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype
chemical_list: D024143:Collagen Type VII