ArticleHuman genetics2005
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 51 citations in OpenAlex.
- Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Trial
- The LAMB3-ITGA6 axis orchestrates epithelial repair in periodontitis via hemidesmosomal regulation and keratinization modulation.Frontiers in cell and developmental biology · 2026Article
- Novel eRF3a degrader enhances gentamicin-induced premature termination codon readthrough in epidermolysis bullosa.Molecular therapy. Nucleic acids · 2025Article
- Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa.Molecular therapy. Nucleic acids · 2024Article
- Extracellular matrix-derived materials for tissue engineering and regenerative medicine: A journey from isolation to characterization and application.Bioactive materials · 2024Review
- Chromosome-level Dinobdella ferox genome provided a molecular model for its specific parasitism.Parasites & vectors · 2023Article
- Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.Frontiers of medicine · 2022Article
- Article
- Gentamicin inducesProceedings of the National Academy of Sciences of the United States of America · 2018Article
- Laminins: Roles and Utility in Wound Repair.Advances in wound care · 2015Review
- A new mouse model of junctional epidermolysis bullosa: the LAMB3 628G>A knockin mouse.The Journal of investigative dermatology · 2015Article
- Epidermolysis bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene.BMC veterinary research · 2015Article
- Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.PLoS genetics · 2014Article
- Early intra-amniotic gene transfer using lentiviral vector improves skin blistering phenotype in a murine model of Herlitz junctional epidermolysis bullosa.Gene therapy · 2012Article
- Type XVII collagen (BP180) can function as a cell-matrix adhesion molecule via binding to laminin 332.Matrix biology : journal of the International Society for Matrix Biology · 2011Article
- Evaluation of prenatal intra-amniotic LAMB3 gene delivery in a mouse model of Herlitz disease.Gene therapy · 2006Article
- Laminin 332 in junctional epidermolysis bullosa.Cell adhesion & migrationReview
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Herlitz disease (H-JEB), the lethal form of junctional epidermolysis bullosa, is a rare genodermatosis presenting from birth with widespread erosions and blistering of skin and mucosae because of tissue cleavage within the epidermal basement membrane. Mutations in any of the three genes encoding the alpha3, beta3 and gamma2 chains of laminin-5 underlie this recessively inherited disorder. Here, we report the molecular basis and clinical course of H-JEB in 12 patients. Two novel nonsense mutations in the gene LAMA3 (E281X and K1299X) and a novel frame-shift mutation in the gene LAMB3 (1628insG) leading to a premature termination codon were identified by DNA sequencing and confirmed by restriction fragment length polymorphism analysis. In the four patients affected, neither the resulting truncated polypeptide chains nor assembled laminin-5 protein were detectable by immunofluorescence. Three patients were found to be heterozygous for the known hotspot mutation R635X and the recurrent mutations Q373X or 29insC in the gene LAMB3, whereas five others were homozygous for R635X. Significant variations in the disease progression and survival times between 1 and 30 months in this group of H-JEB patients emphasised the impact of modifying factors and the importance of immunostaining or mRNA assessment as parallel diagnostic methods. Interestingly, the only patients who survived for longer than 6 months were four females carrying the mutation R635X homozygously. In one of them, the clinical course may have been improved by treatment with artificial skin equivalents. These data may stimulate further investigation of genotype-phenotype correlations and facilitate mutation analysis and genetic counselling of affected families.
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