Novel KRT14 mutation in a Taiwanese patient with epidermolysis bullosa simplex (Köbner type).
Epidermolysis bullosa simplex (EBS) is a group of hereditary bullous diseases characterized by intraepidermal blistering due to mechanical stress-induced degeneration of basal keratinocytes. Three major subtypes have been identified with autosomal dominant inheritance: the Weber-Cockayne type, the Köbner type (EBS-K), and the Dowling-Meara type. All three EBS subtypes are caused by mutations in either keratin 5 or keratin 14, the major keratins expressed in the basal layer of the epidermis. We describe a 25-year-old male with easy blistering after trauma over the whole body from the age of 4 to 5 years. According to the clinicopathologic findings, EBS-K was diagnosed. Mutational analysis revealed a novel keratin 14 mutation (1237G-->A) that produces a conservative amino acid change (alanine to threonine) at position 413 (A413T) of the 2B helix.
Chao
Sheau-Chiou
SC
Department of Dermatology, National Cheng-Kung University Hospital, 138 Sheng-Li Road, Tainan, Taiwan.
Yang
Mei-Hui
MH
Lee
Shu-Fen
SF
D000328:Adult; D000595:Amino Acid Sequence; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D006801:Humans; D053547:Keratin-14; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation
C507540:KRT14 protein, human; D053547:Keratin-14; D007633:Keratins