title: Recessive dystrophic epidermolysis bullosa: case of non-Hallopeau-Siemens variant with premature termination codons in both alleles.
abstract: Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the COL7A1 gene encoding collagen, the major component of anchoring fibrils. Premature termination codon (PTC) mutations in both alleles usually lead to the Hallopeau-Siemens variant that shows the most severe phenotype. We experienced a case of the non-Hallopeau-Siemens variant (nHS-RDEB), which had a mild clinical severity although it has PTC mutations in both alleles. Our patient was a compound heterozygote for a nonsense mutation (R669X) in exon 15 and a nonsense mutation (E2857X) in exon 116. But we confirmed the existence of some anchoring fibrils on electron micrograph. This suggested that a PTC close to the 3' end of COL7A1 does not completely abolish the collagen VII mRNA. We hypothesized that the truncated procollagen VII from the mutant allele with a nonsense mutation (E2857X) in exon 116 included two out of eight cysteines needed for disulfide bond formation, and hence a few functional anchoring fibrils could be formed.
authors.affiliation: Department of Dermatology, Wakayama Medical University, School of Medicine, Kmiidera, Japan. nozo@wakayama-med.ac.jp
authors.forename: Nozomi
authors.initials: N
authors.lastname: Yonei
authors.forename: Toshio
authors.initials: T
authors.lastname: Ohtani
authors.forename: Fukumi
authors.initials: F
authors.lastname: Furukawa
mesh_terms: D000328:Adult; D000483:Alleles; D018388:Codon, Terminator; D003094:Collagen / Q000235:genetics*; D003937:Diagnosis, Differential; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease; D006801:Humans
chemical_list: D018388:Codon, Terminator; D003094:Collagen