Recurrent COL7A1 Mutations in Japanese Patients with Dystrophic Epidermolysis Bullosa: Positional Effects of Premature Termination Codon Mutations on.

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Recurrent COL7A1 Mutations in Japanese Patients with Dystrophic Epidermolysis Bullosa: Positional Effects of Premature Termination Codon Mutations on Clinical Severity Katsuto Tamai, Takaya Murai, Mamiko Mayama, Atsushi Kon, Kazuo Nomura, Daisuke Sawamura, Katsumi Hanada, Isao Hashimoto Journal of Investigative Dermatology Volume 112, Issue 6, Pages 991-993 (June 1999) DOI: 10.1046/j.1523-1747.1999.00601.x Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Screening of Japanese DEB patients for recurrent mutations by restriction endonuclease digestions. Specifically, the 5818delC mutation destroys a restriction enzyme site for MspI (Christiano et al. 1995), whereas the mutation 6573 + 1G→C creates a new restriction enzyme site for MspI (Tamai et al. 1997). The E2857X mutation destroys a restriction enzyme site for MaeI (Tamai et al. 1997). The corresponding PCR products were digested with these restriction enzymes under conditions recommended by the manufacturer (Takara, Tokyo, Japan; Boehringer-Mannheim, Indianapolis, IN). The digestion products were examined on 3% agarose gels. Journal of Investigative Dermatology 1999 112, 991-993DOI: (10.1046/j.1523-1747.1999.00601.x) Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Clinical features of Patients 1, 2, and 3. The positions of the premature termination codon-causing mutations (PTC) along the type VII collagen molecule in the corresponding cases are shown on the right-hand side. Open boxes (□) correspond to the triple-helical regions, whereas the solid bars (▪) correspond to noncollagenous domains within the type VII collagen molecule. During diagnostic work-up, indirect immunofluorescence of the skin within a monoclonal LH7.2 antibody recognizing type VII collagen showed clearly positive staining in Patient 1 (A) at the dermal–epidermal junction, whereas the basement membrane zone staining in Patient 2 (B) was markedly attenuated. The staining in Patient 3 (C) was entirely negative. Transmission electron microscopy showed clearly detectable, yet thin, anchoring fibrils in Patient 1, whereas the anchoring fibrils in Patient 2 were markedly reduced in number. No anchoring fibrils were seen at the dermal–epidermal junction in Patient 3 (not shown). Journal of Investigative Dermatology 1999 112, 991-993DOI: (10.1046/j.1523-1747.1999.00601.x) Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions