The COL7A1
 mutation database

Wertheim–Tysarowska, Katarzyna; Sobczyńska-Tomaszewska, Agnieszka; Kowaléwski, Cezary; Skronski, Michal; Święćkowski, Grzegorz; Kutkowska-Kaźmierczak, Anna; Woźniak, Katarzyna; Bal, Jerzy

doi:10.1002/humu.21651

Cited by 65 publications

(62 citation statements)

References 15 publications

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“…Less severe forms generally result from other (non-glycine) amino acid substitution and binding mutations, leading to a variety of phenotypes (>700 mutations in the literature). [28][29][30][31][32][33][34] In the three patients with RDEB, the results of MA were in line with their clinical picture. In the first patient, mutation c.2503G>T results in a stop codon at residue 835 of the protein type VII collagen (p.Glu835X).…”

Section: Discussionsupporting

confidence: 65%

Epidermolysis bullosa in Greece: the patients’ journey so far

et al. 2018

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Background: Hereditary epidermolysis bullosa (EB) represents a group of rare, inherited disorders with different penetrance patterns characterized by skin fragility and easy inducibility of blisters. Mucosal involvement of internal organs may occur. As no published data on EB in Greece exist, this study aimed to record demographics and clinical characteristics of EB patients. Another objective was to identify the associations among clinical characteristics of different types in connection with immunofluorescence mapping (IMF) findings and molecular analysis (MA) used for the laboratory diagnosis of the disease.Methods: This is a descriptive study conducted at the outpatient clinic of rare diseases of Andreas Sygros Hospital, Athens, Greece from March 2012 until February 2015. Adults and children presenting with EB were enrolled. Patients underwent a thorough clinical and laboratory assessment. Specific laboratory analyses were performed in Rome and two sets of data based on IFM and MA were collected.Results: In total, 41 patients were enrolled. Prevalence rate of EB was 0.024%. The most frequent type was dystrophic EB, as it affected 20 patients (48.8%). Twelve patients (29.3%) were diagnosed with EB simplex, 6 patients (14.6%) with Kindler syndrome and 3 (7.3%) with junctional EB. IFM was performed in 26 patients and MA in 8 patients. The concordance among clinical and laboratory diagnosis was 88.5%.Conclusions: This study is the first report on hereditary EB in Greece. Since there is a lack in diagnostic management of EB, we would strongly encourage an effort to perform the required laboratory tests in Greece.

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Section: Discussionsupporting

confidence: 65%

Epidermolysis bullosa in Greece: the patients’ journey so far

et al. 2018

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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%

“…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%

Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients

Woodley¹,

Cogan²,

Hou³

et al. 2017

Journal of Clinical Investigation

101

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BACKGROUND.Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration induces type VII collagen and AFs in RDEB patients. METHODS.A double-blind, placebo-controlled pilot trial assessed safety and efficacy of topical and intradermal gentamicin in 5 RDEB patients with nonsense mutations. The topical arm tested 0.1% gentamicin ointment or placebo application 3 times daily at 2 open erosion sites for 2 weeks. The intradermal arm tested daily intradermal injection of gentamicin solution (8 mg) or placebo into 2 intact skin sites for 2 days in 4 of 5 patients. Primary outcomes were induction of type VII collagen and AFs at the test sites and safety assessment. A secondary outcome assessed wound closure of topically treated erosions. RESULTS.Both topical and intradermal gentamicin administration induced type VII collagen and AFs at the dermal-epidermal junction of treatment sites. Newly created type VII collagen varied from 20% to 165% of that expressed in normal human skin and persisted for 3 months. Topical gentamicin corrected dermal-epidermal separation, improved wound closure, and reduced blister formation. There were no untoward side effects from gentamicin treatments. Type VII collagen induction did not generate anti-type VII collagen autoantibodies in patients' blood or skin.CONCLUSION. Topical and intradermal gentamicin suppresses nonsense mutations and induces type VII collagen and AFs in RDEB patients. Gentamicin therapy may provide a readily available treatment for RDEB patients with nonsense mutations. TRIAL REGISTRATION. ClinicalTrials.gov NCT02698735.

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“…Mutations in this gene have been linked with dystrophic epidermolysis bullosa, a blistering skin condition. 27 To our knowledge, no prior studies have investigated DNA methylation in this gene or linked it with depression or other psychological experiences.…”

Section: Discussionmentioning

confidence: 99%