Compound heterozygosity in sibling patients with recessive dystrophic epidermolysis bullosa associated with a mild phenotype

International Journal of Dermatology
Y ShibusawaO Ishikawa

Abstract

We describe two cases of a 3-year-old Japanese boy and his 1-year-old sister presenting recessive dystrophic epidermolysis bullosa; a relatively mild phenotype. Blistering and scarring were limited to the acral region, and some fingernails and toenails were lost. PCR-RFLP and DNA sequencing analyses revealed compound heterozygotes for a splice-site mutation (6573 +1GtoC) and a nonsense mutation (E2857X) in the type VII collagen gene (COL7A1). Both mutations caused a premature termination codon (PTC). The mutation E2857X was located behind the candidate cleavage site within the NC-2 domain required for the assembly of anchoring fibrils. This PTC position may explain their mild phenotype.

References

Jan 1, 1994·Archives of Dermatological Research·J Uitto, A M Christiano
Sep 1, 1993·The Journal of Investigative Dermatology·R E Burgeson
May 3, 2002·The Journal of Biological Chemistry·Anke RattenhollLeena Bruckner-Tuderman
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Oct 7, 2004·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Jouni Uitto, Gabriele Richard

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Citations

Oct 6, 2007·The British Journal of Dermatology·S-W OhS-C Kim

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