Novel compound heterozygous mutation in LAMC 2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa

Junctional epidermolysis bullosa ( JEB ) is a heritable blistering skin disease characterized by separation within the lamina lucida. It is caused by mutations in the LAMA 3 , LAMB 3 and LAMC 2 genes encoding the α3‐, β3‐ and γ2‐chains, respectively, of laminin‐332. JEB Herlitz type ( JEB ‐H) is a lethal blistering disease with severe cutaneous and extracutaneous involvements caused by null mutations in the gene encoding laminin‐332. Here, we report a proband with JEB ‐H who is a compound heterozygote for two novel mutations in LAMC 2 ; a missense mutation (c.79G>A) and an insertion mutation (382insT) leading to a premature termination codon.