title: Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa.
abstract: 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.
authors.affiliation: Department of Dermatology, Gangnam Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: In Kyung
authors.initials: IK
authors.lastname: Jeon
authors.forename: Song-Ee
authors.initials: SE
authors.lastname: Kim
authors.forename: Soo-Chan
authors.initials: SC
authors.lastname: Kim
mesh_terms: D001483:Base Sequence; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007797:Laminin / Q000235:genetics*; D008297:Male; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense
chemical_list: D018389:Codon, Nonsense; C400567:LAMC2 protein, human; D007797:Laminin
keywords: Herlitz; LAMC2; epidermolysis bullosa; junctional; novel mutation