Novel compound heterozygous mutation in LAMC2 genes (c.79G > A and 382insT) in Herlitz junctional epidermolysis bullosa

作者：Jeon In Kyung; Kim Song Ee; Kim Soo Chan^*

来源：Journal of Dermatology, 2014, 41(4): 322-324.

DOI：10.1111/1346-8138.12413

• epidermolysis bullosa
• Herlitz
• junctional
• LAMC2
• novel mutation

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 3-, 3- and 2-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.

• 出版日期2014-4