K5 D328E: A novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne)

Human Heredity

Volumn 50, Issue 4, 2000, Pages 234-236

  Liovic, Mirjana ^a   Podrumac, Bozana ^a   Dragos, Vlasta ^a   Vouk, Katja ^a   Komel, Radovan ^a  

^a UNIVERSITY OF LJUBLJANA   (Slovenia)

Author keywords

Epidermolysis bullosa simplex; Intermediate filaments; Keratin

Indexed keywords

KERATIN;

ARTICLE; CASE REPORT; CODON; CONTROLLED STUDY; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HUMAN CELL; MISSENSE MUTATION; SLOVENIA;

EID: 0034107803     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022921     Document Type: Article

References (10)

1. 328 to Val in linker L12 domain of keratin 5. Hum Mol Genet 1995;4:1999-2000.
2. Müller FB, Küster W, Brickner-Tuderman L, Korge B: Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex. J Invest Dermatol 1998;111:900-902.
3. Stephens K, Ehrlich P, Weaver M, Le R, Spencer A, Sybert VP: Primers for exon-specific amplification of the KRT5 gene: Identification of novel and recurrent mutations in epidermolysis bullosa simplex. J Invest Dermatol 1997;108:349-353.
4. Galligan P, Listwan P, Siller GM, Rothnagel JA: A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex. J Invest Dermatol 1998;11:524-527.
5. Chan Y-M, Yu Q-C, LeBlanc-Straceski J, Christiano A. Pulkinnen L, Kucherpalati RS, Uitto J, Fuchs E: Mutations in the non-helical linker segment L12 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex. J Cell Sci 1994;107:765-774.
6. Rugg EL, Morley SM, Smith FJD, Boxer M, Tidman MJ, Navsaria H, Leigh IM, Lane EB: Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function. Nat Genet 1993;5:294-300.
7. Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P: A mutation (Met to Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. Hum Mutat 1993;2:37-42.
8. Chen H, Bonifas JM, Matsumura K, Ikeda S, Leyden WA, Epstein EH Jr: Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. J Invest Dermatol 1995;105:629-632.
9. Kremer H, Lavrijsen APM, MeLean WHI, Lane EB, Melchers D, Ruiter DJ, Mariman ECM, Steijlen PM: An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1. J Invest Dermatol 1998;111:1224-1226.
10. Steinert PM: Structure, function, and dynamics of keratin intermediate filaments. J Invest Dermatol 1993;100:729-734.