PMID: 8592061Jan 1, 1996Paper

Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity

The Journal of Investigative Dermatology
H ShimizuJ Uitto

Abstract

Mutations within the gene encoding the anchoring fibril protein type VII collagen (COL7A1) have recently been established as the pathogenetic basis for the inherited blistering skin disorder, dystrophic epidermolysis bullosa. We report a patient with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa. We report a patient with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa, in whom COL7A1 mutations have been identified on both alleles. The patient is a 5-y-old Japanese male of nonconsanguineous parents, with clinical features including generalized trauma-induced blistering since birth, complete loss of nails, and partial fusion of the fingers and toes. Immunofluorescence microscopy examination of the dermal-epidermal junction in the patient's skin revealed near-normal intensity staining with an antitype VII collagen antibody (LH7:2). Transmission electron microscopy showed a reduced number of thin, poorly-formed anchoring fibrils. PCR amplification of genomic DNA, followed by heteroduplex analysis, and nucleotide sequencing demonstrated that the patient was a compound heterozygote for a nonsense mutation (E2858X) within the NC-2 domain of type VII collagen and a missense muta...Continue Reading

Citations

Mar 25, 2006·Journal of Human Genetics·Daisuke SawamuraHiroshi Shimizu
Sep 8, 2010·The New England Journal of Medicine·John E WagnerJakub Tolar
Sep 29, 2005·Journal of Human Genetics·Daisuke SawamuraHiroshi Shimizu
May 21, 2008·International Journal of Cosmetic Science·H LambersP Finkel
Mar 31, 2017·Intractable & Rare Diseases Research·Ellie Rashidghamat, John A McGrath
Oct 29, 2004·The Journal of Biological Chemistry·Raymond BrittinghamAndrzej Fertala
Oct 6, 2007·The British Journal of Dermatology·S-W OhS-C Kim
Oct 7, 2004·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Jouni Uitto, Gabriele Richard
Nov 18, 2003·The British Journal of Dermatology·R MallipeddiJ A McGrath
Jun 22, 2002·Journal of the American Academy of Dermatology·Leena PulkkinenJouni Uitto
Apr 1, 1996·The Journal of Investigative Dermatology·A M ChristianoJ Uitto

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