Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14

Clinical and Experimental Dermatology

Volumn 33, Issue 6, 2008, Pages 689-697

  Yiasemides, E ^b   Trisnowati, N ^b   Su, J ^c   Dang, N ^b,d   Klingberg, S ^e   Marr, P ^b   Melbourne, W ^b   Tran, K ^b   Chow, C W ^b   Orchard, D ^c   Varigos, G ^c   Murrell, D F ^a,b  

^a UNIVERSITY OF NEW SOUTH WALES   (Australia)

^b ST GEORGE HOSPITAL   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d JINAN STOMATOLOGICAL HOSPITAL   (China)

^e ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 14; CYTOKERATIN 6; GENOMIC DNA; MONOCLONAL ANTIBODY;

ARTICLE; BASEMENT MEMBRANE; BLISTER; BULLOUS SKIN DISEASE; CASE REPORT; DNA EXTRACTION; ELECTRON MICROSCOPY; EXON; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; KRT14 GENE; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE EPIDERMOLYSIS BULLOSA SIMPLEX; SCHOOL CHILD; SKIN BIOPSY; STAINING;

AUSTRALIA; CHILD; CONSANGUINITY; EPIDERMOLYSIS BULLOSA; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENE DELETION; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; KERATIN-14; KERATIN-16; KERATIN-6; MUTATION; PEDIGREE; PHENOTYPE; SKIN; TURKEY;

EID: 53349109026     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2008.02858.x     Document Type: Article

References (24)

1. Uitto J, Richard G. Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. Clin Dermatol 2005 23 : 33 40.
2. Yiasemides E, Walton J, Marr P et al. A comparative study between transmission electron microscopy and immunofluorescence mapping in the diagnosis of epidermolysis bullosa. Am J Dermatopathol 2006 28 : 387 94.
3. Schuilenga-Hut PHL, Scheffer H, Pas HH et al. Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex. J Invest Dermatol 2002 118 : 626 30.
4. Whittock NV, Eady RA, McGrath JA. Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5. Biochem Biophys Res Comms 2000 274 : 149 52.
5. Yasukawa K, Sawamura D, McMillan JR et al. Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly. J Biol Chem 2002 277 : 23670 4.
6. Cummins RE, Klingberg S, Wesley J et al. Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. J Invest Dermatol 2001 117 : 1103 7.
7. Premaratne C, Klingberg S, Glass I et al. Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14. Australas J Dermatol 2002 43 : 28 34.
8. Has C, Chang Y, Volz A et al. Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex. J Invest Dermatol 2006 126 : 1912 14.
9. Lanschuetzer CM, Klausegger A, Pohla-Gubo G et al. A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Kobner. Clin Exp Dermatol 2003 28 : 77 9.
10. Corden LD, Mellerio JE, Gratian MJ et al. Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex. Hum Mutat 1998 11 : 279 85.
11. Hu ZL, Smith L, Martins S et al. Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex - increased severity of disease in a homozygote. J Invest Dermatol 1997 109 : 360 4.
12. Jonkman MF, Heeres K, Pas HH et al. Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. J Invest Dermatol 1996 107 : 764 9.
13. Chan Y, Anton-Lamprecht I, Yu QC et al. A human keratin 14 'knockout'. the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. Genes Dev 1994 8 : 2574 87.
14. Ciubotaru D, Bergman R, Baty D et al. Epidermolysis bullosa simplex in Israel. Clinical and genetic features. Arch Dermatol 2003 139 : 498 505 [erratum appears in Arch Dermatol 2003; 1084].
15. Rugg EL, McLean WH, Lane EB et al. A functional 'knockout' of human keratin 14. Genes Dev 1994 8 : 2563 73.
16. Fine JD, Johnson L, Wright T, Honguchi Y. Epidermolysis bullosa simplex: identification of a kindred with autosomal recessive transmission of the Weber-Cockayne variety. Pediatr Dermatol 1989 6 : 1 5.
17. Hovnanian A, Pollack E, Hilal L et al. A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. Nat Genet 1993 3 : 327 32.
18. Batta K, Rugg EL, Wilson NJ et al. A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease. Br J Dermatol 2000 143 : 621 7.
19. Wood P, Baty DU, Lane EB, McLean WHI. Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients. J Invest Dermatol 2003 120 : 495 7.
20. Indelman M, Bergman R, Sprecher E. A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex. J Invest Dermatol 2005 124 : 272 4.
21. Lloyd C, Yu QC, Cheng J et al. The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14. J Cell Biol 1995 129 : 1329 44.
22. Bauer JW, Schaeppi H, Kaserer C et al. Large melanocytic nevi in hereditary epidermolysis bullosa. J Am Acad Dermatol 2001 44 : 577 84.
23. Charlesworth A, Gagnoux-Palacios L, Bonduelle M et al. Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. J Invest Dermatol 2003 121 : 1344 8.
24. Pasmooij AM, van der Steege G, Pas HH et al. Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen. Br J Dermatol 2004 151 : 669 74.