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Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ–5)

Abstract

We have linked Herlitz's junctional epidermolysis bullosa (H–JEB) to the gene (LAMC2) encoding the γ2 subunit of nicein/kalinin, an isolaminin (laminin–5) expressed by basal keratinocytes. In four H–JEB kindreds, a maximum two–point lod score of 5.33 at θ=0 was observed between a microsatellite near LAMC2 at 1 q25–31 and the disease. In one family, a homozygous point mutation leading to a premature stop codon (CGA to TGA) was identified in exon 3 of the gene. The segregation of the mutated allele implicates the mutation in the pathology of the disorder and corroborates the linkage results.

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