TY - JOUR
T1 - Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa
AU - Jeon, In Kyung
AU - Kim, Song Ee
AU - Kim, Soo Chan
PY - 2014/4
Y1 - 2014/4
N2 - Junctional epidermolysis bullosa (JEB) is a heritable blistering skin disease characterized by separation within the lamina lucida. It is caused by mutations in the LAMA3, LAMB3 and LAMC2 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 LAMC2; a missense mutation (c.79G>A) and an insertion mutation (382insT) leading to a premature termination codon.
AB - Junctional epidermolysis bullosa (JEB) is a heritable blistering skin disease characterized by separation within the lamina lucida. It is caused by mutations in the LAMA3, LAMB3 and LAMC2 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 LAMC2; a missense mutation (c.79G>A) and an insertion mutation (382insT) leading to a premature termination codon.
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U2 - 10.1111/1346-8138.12413
DO - 10.1111/1346-8138.12413
M3 - Article
C2 - 24533970
AN - SCOPUS:84897489892
SN - 0385-2407
VL - 41
SP - 322
EP - 324
JO - Journal of Dermatology
JF - Journal of Dermatology
IS - 4
ER -