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Novel compound heterozygous mutation in LAMC 2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa
Author(s) -
Jeon In Kyung,
Kim SongEe,
Kim SooChan
Publication year - 2014
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.12413
Subject(s) - junctional epidermolysis bullosa (veterinary medicine) , missense mutation , epidermolysis bullosa , genetics , mutation , gene , compound heterozygosity , laminin , biology , heterozygote advantage , lamina lucida , microbiology and biotechnology , allele , extracellular matrix
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.