2011
DOI: 10.1002/humu.21551
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The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

Abstract: Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder that can be inherited autosomal dominantly (DDEB) or recessively (RDEB) and covers a group of several distinctive phenotypes. A large number of unique COL7A1 mutations have been shown to underlie DEB. Although general genotype-phenotype correlation rules have emerged, many exceptions to these rules exist, compromising disease diagnosing and genetic counseling. We therefore constructed the International DEB Patient Registry (http://www.de… Show more

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Cited by 81 publications
(73 citation statements)
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“…More than 800 distinct mutations have been identified in RDEB patients, in which the prevalence of nonsense mutations in RDEB approaches 30% (32,33). Nonsense mutations result in PTCs that cause a truncated or unstable type VII collagen.…”
Section: Resultsmentioning
confidence: 99%
See 1 more Smart Citation
“…More than 800 distinct mutations have been identified in RDEB patients, in which the prevalence of nonsense mutations in RDEB approaches 30% (32,33). Nonsense mutations result in PTCs that cause a truncated or unstable type VII collagen.…”
Section: Resultsmentioning
confidence: 99%
“…Our data may not reflect all potential responses in patients harboring other different nonsense mutations. It is important, however, to point out that 4 nonsense mutations studied here, R236X, R578X, R1683X, and R2814X, are recurrent mutations in RDEB patients and account for 8% of total RDEB patients and 25% of RDEB patients who have nonsense mutations (32,33).…”
Section: Patients and Interventionsmentioning
confidence: 88%
“…19 In our patient, a somatic nucleotide change in the germline mutated codon rescues the mutant phenotype by reverting the nonsense codon to a tyrosine (p.X2170Tyr), which leads to the restoration of functionalproteinproduction.Theresultantmissensechange p.Gln2170Tyr has been described neither as a neutral polymorphism (dbSNP, http://www.ncbi.nlm.nih.gov/projects /SNP/) nor as a pathogenic mutation in patients with RDEB (International Dystrophic Epidermolysis Bullosa Patient Registry, www.deb-central.org, accessed on June 30, 2011). 20 This missense change resides at the third position of a Gly-X-Y triplet and, contrary to substitutions of glycine residues at the first position of the Gly-X-Y triples, 21 it is difficult, if not impossible, to predict the effect of such amino acid substitutions on triple-helix stability and clinical outcome. The pathogenicity prediction software pack- age Alamut, version 2.0 (Interactive Biosoftware, Rouen, France), classifies the p.Gln2170Tyr missense change as being of unknown pathogenicity.…”
Section: Commentmentioning
confidence: 99%
“…Although TALEN correction appears to be a superior option to previous gene therapy methods, TALEN construction must be tailored to the particular COL7A1 loci that harbor the specific RDEB mutations, which can be both costly and labor-intensive [88]. As there are hundreds of causative mutations for RDEB characterized to date, using this approach on a larger scale may be challenging [89]. With the advent of clustered regulatory interspaced short palindromic repeats and associated proteins (CRISPR/Cas), the ability to correct multiple genetic mutations in human cells might have become considerably easier [90-92], although their off-target profile needs to be carefully analyzed [93].…”
Section: Gene Therapy: Both Inside and Outside Of The Col7a1 Locusmentioning
confidence: 99%