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- W2753166229 abstract "Dystrophic epidermolysis bullosa (DEB) is caused by mutations in COL7A1 encoding type VII collagen forming anchoring fibrils. DEB can be inherited in an autosomal dominant or recessive pattern. We report four unrelated patients (age range 19-49 years) presenting with generalized DEB who are compound heterozygotes for a dominant and a recessive COL7A1 mutation. In the first family, the mother and two of her children had a mild phenotype with nail dystrophy and minor skin blistering. They were heterozygous for the c.8109+4A>G splicing mutation. Four siblings presented with a more severe phenotype with finger contractures and esophageal stenosis. They had an additional recessive mutation (p.Ser2447Aspfs*17). In the second family, the mother had a multigenerational history of very mild blistering and nail dystrophy. Her daughter had a more severe phenotype with finger contractures and esophageal stenosis. Both had a p.Gly2009Val dominant mutation but the daughter had also inherited a p.Arg2791Trp recessive mutation from her unaffected father. The two other patients were sporadic cases from unaffected parents. The third patient had skin blistering predominant on his legs without finger contractures and no esophageal stenosis. He had inherited a p.Arg1538His COL7A1 recessive mutation from his unaffected mother, and carried a de novo dominant mutation p.Gly2079Arg. The fourth patient had intertriginous lesions, finger contractures and esophageal stricture resembling RDEB inversa. Mutation analysis revealed a dominant p.Gly2003Arg mutation and a recessive p.Arg578* mutation. Her parents have not yet been investigated. This report emphasizes the importance of searching for a second COL7A1 recessive mutation in case of a patient with unexpected severity in multigenerational dominant DEB families. It also points to the phenotypic variability resulting from the combination of a dominant and recessive COL7A1 mutation." @default.
- W2753166229 created "2017-09-15" @default.
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- W2753166229 date "2017-10-01" @default.
- W2753166229 modified "2023-09-30" @default.
- W2753166229 title "237 Diagnostic challenge of compound heterozygosity for dominant and recessive COL7A1 mutations in dystrophic epidermolysis bullosa" @default.
- W2753166229 doi "https://doi.org/10.1016/j.jid.2017.07.234" @default.
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