A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of Epidermolysis Bullosa Simplex

Experimental Dermatology

Volumn 18, Issue 7, 2009, Pages 650-652

  Bowden, Paul E ^a   Knight, Arthur G ^b   Liovic, Mirjana ^c,d  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^c UNIVERSITY OF LJUBLJANA   (Slovenia)

^d NATIONAL INSTITUTE OF CHEMISTRY   (Slovenia)

Author keywords

EBS; Intermediate filaments; Keratin; Mutation; O glycosylation; Phosphorylation

Indexed keywords

CYTOKERATIN 5; GENOMIC DNA; SERINE; THREONINE;

ALPHA HELIX; ARTICLE; BLISTER; CODON; DNA ISOLATION; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA SIMPLEX; EXON; GENE AMPLIFICATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MISMATCH REPAIR; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SKIN FRAGILITY;

EPIDERMOLYSIS BULLOSA SIMPLEX; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KERATIN-5; MALE; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, TERTIARY;

EID: 66949169621     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/j.1600-0625.2008.00820.x     Document Type: Article

References (18)

1. Fine J D, Eady R A, Bauer E A et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008: 6: 931-950.
2. Rugg E L, Horn H M, Smith F J et al. Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations. J Invest Dermatol 2007: 3: 574-580.
3. Di Nunzio F, Maruggi G, Ferrari S et al. Correction of laminin-5 deficiency in human epidermal stem cells by transcriptionally targeted lentiviral vectors. Mol Ther 2008, Epub ahead of print.
4. Dang N, Klingberg S, Rubin A I et al. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: Three novel mutations and a review of the literature. Acta Derm Venereol 2008: 5: 438-448.
5. Dang N, Murrell D F. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol 2008: 7: 553-568.
6. Lai-Cheong J E, Ussar S, Arita K, Hart I R, McGrath J A. Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. J Invest Dermatol 2008: 9: 2156-2165.
7. Cassidy A J, Irvine A D, McLean W H I. The Human Intermediate Filament Mutation Database, http://www.interfil.org, 2002.
8. Lane E B, McLean W H I. Keratins and skin disorders. J Pathol 2004: 204: 355-366.
9. Humphries M M, Sheils D M, Farrar G J et al. A mutation (Met->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. Hum Mutat 1993: 2: 37-42.
10. Galligan P, Listwan P, Siller G M, Rothnagel J A. A novel mutation in the L12 domain of keratin 5 in the Kobner variant of epidermolysis bullosa simplex. J Invest Dermatol 1998: 111: 524-527.
11. Sorensen C B, Ladekjaer-Mikkelsen A S, Andresen B S et al. Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. J Invest Dermatol 1999: 112: 184-190.
12. Liovic M, Stojan J, Bowden P E et al. A novel keratin 5 mutation (K5V186L) in a family with EBS-K: A conservative substitution can lead to development of different disease phenotypes. J Invest Dermatol 2001: 116: 964-969.
13. Liovic M, Bowden P E, Marks R, Komel R. A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype. Exp Dermatol 2004: 13: 332-334.
14. Muller F B, Kuster W, Wodecki K et al. Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. Hum Mutat 2006: 27: 719-720.
15. Julenius K, Mølgaard A, Gupta R, Brunak S. Prediction, conservation analysis and structural characterization of mammalian mucin-type O-glycosylation sites. Glycobiology 2005: 15: 153-164.
16. Blom N, Gammeltoft S, Brunak S. Sequence- and structure-based prediction of eukaryotic protein phosphorylation sites. J Mol Biol 1999: 5: 1351-1362.
17. Abu Sa'd J, Indelman M, Pfendner E et al. Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. J Invest Dermatol 2006: 126: 777-781.
18. Xu Z, Dong H, Sun X, Zhu X, Yang Y. A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex. Clin Exp Dermatol 2004: 29: 74-76.