2006
DOI: 10.1111/j.1365-4632.2006.02774.x
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Compound heterozygosity in sibling patients with recessive dystrophic epidermolysis bullosa associated with a mild phenotype

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 mutat… Show more

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Cited by 6 publications
(2 citation statements)
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“…Furthermore, severe phenotypes do not always occur when other PTC mutations are coupled with p.Glu2857X, since 18 M. Saito et al patients 2, 3 and 4 possessed additional PTC-causing mutations c.5818delC, c.6573 + 1G > C, and c.8008delT, respectively, but presented with moderate clinical phenotypes. The six patients, including the three previously reported cases [18,19], appear to share similar genetic features regarding type VII collagen synthesis, and the phenotypic variability may be attributed to factors such as age, environmental or genetic background. A contribution of factors other than COL7A1 mutations to DEB phenotypes has also been proposed in a previous study [22], in which a glycine substitution mutation led to marked interfamiliar clinical heterogeneity in DDEB.…”
Section: Pglu2857x Exhibits Mild Pathogenic Effects Compared To Othementioning
confidence: 95%
See 1 more Smart Citation
“…Furthermore, severe phenotypes do not always occur when other PTC mutations are coupled with p.Glu2857X, since 18 M. Saito et al patients 2, 3 and 4 possessed additional PTC-causing mutations c.5818delC, c.6573 + 1G > C, and c.8008delT, respectively, but presented with moderate clinical phenotypes. The six patients, including the three previously reported cases [18,19], appear to share similar genetic features regarding type VII collagen synthesis, and the phenotypic variability may be attributed to factors such as age, environmental or genetic background. A contribution of factors other than COL7A1 mutations to DEB phenotypes has also been proposed in a previous study [22], in which a glycine substitution mutation led to marked interfamiliar clinical heterogeneity in DDEB.…”
Section: Pglu2857x Exhibits Mild Pathogenic Effects Compared To Othementioning
confidence: 95%
“…4(b)). Reported patients with p.Glu2857X in one allele and another PTC mutation in the other allele (a 40-year-old male: p.Glu2857X/c.5604 + 2G > C [17], 3-year-old and 1-year-old siblings: p.Glu2857X/c.6573 + 1G > C [18], and a 19-year-old female: p.Glu2857X/p.Arg669X [19]) do not present with the most severe HS subtype of RDEB, suggesting that some stable type VII collagen might be translated from the allele with p.Glu2857X, which might explain the mild phenotype [12].…”
Section: Pglu2857x Exhibits Mild Pathogenic Effects Compared To Othementioning
confidence: 99%