Ortonne Jp

TL;DR: The H–JEB kindreds have linked Herlitz's junctional epidermolysis bullosa to the gene (LAMC2) encoding the γ2 subunit of nicein/kalinin, an isolaminin expressed by basal keratinocytes, and the segregation of the mutated allele implicates the mutation in the pathology of the disorder and corroborates the linkage results.

TL;DR: These findings provide the first evidence that nonsense mutations within the LAMA3 gene are also involved in the pathogenesis of JEB, and indicate that mutations of all three genes of laminin 5 can result in the JEB phenotype.

TL;DR: GB3 is a useful probe for both rapid and prenatal diagnosis of lethal junctional epidermolysis bullosa, which will give new insights into the molecular comprehension of this disorder.

TL;DR: Kalinin and nicein are identical by biochemical and immunologic analysis and correlate with previous immunofluorescent findings that show that while kalinin or nicein is absent in basement membranes of individuals with JEB Herlitz's disease, K-laminin appears to be present.

TL;DR: It is demonstrated that in a MD-EBS kindred with two affected members, the disease results from a homozygous nonsense mutation in the plectin (PLEC1) gene leading to a premature stop codon (CGA to TGA) and decay of the aberrant plectIn messenger RNA.