Novel mutations in DSG1 causing striate palmoplantar keratoderma

Clinical and Experimental Dermatology

Volumn 34, Issue 2, 2009, Pages 224-228

  Hershkovitz, D ^b   Lugassy, J ^b,c   Indelman, M ^b   Bergman, R ^b,c   Sprecher, E ^a,b,c  

^a RAMBAM MEDICAL CENTER   (Israel)

^b Laboratory of Molecular Dermatology   (Israel)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYTOKERATIN 1; DESMOGLEIN 1; DESMOPLAKIN; GENOMIC DNA;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DNA SEQUENCE; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; HAPLOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; PALMOPLANTAR KERATODERMA; POLYMORPHIC LOCUS; PRIORITY JOURNAL; STRIATE PALMOPLANTAR KERATODERMA;

CELL PROLIFERATION; DESMOGLEIN 1; DESMOPLAKINS; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; KERATIN-1; KERATODERMA, PALMOPLANTAR; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 58549110226     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2008.02733.x     Document Type: Article

References (22)

1. Kimyai-Asadi A, Kotcher LB, Jih MH. The molecular basis of hereditary palmoplantar keratodermas. J Am Acad Dermatol 2002 47 : 327 43 quiz 44 6.
2. Itin PH, Fistarol SK. Palmoplantar keratodermas. Clin Dermatol 2005 23 : 15 22.
3. McGrath JA. Hereditary diseases of desmosomes. J Dermatol Sci 1999 20 : 85 91.
4. Armstrong DK, McKenna KE, Purkis PE et al. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 1999 8 : 143 8.
5. Rickman L, Simrak D, Stevens HP et al. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 1999 8 : 971 6.
6. Whittock NV, Ashton GH, Dopping-Hepenstal PJ et al. Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol 1999 113 : 940 6.
7. Wan H, Dopping-Hepenstal PJ, Gratian MJ et al. Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. Br J Dermatol 2004 150 : 878 91.
8. Whittock NV, Smith FJ, Wan H et al. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol 2002 118 : 838 44.
9. Milingou M, Wood P, Masouye I et al. Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. Dermatology 2006 212 : 117 22.
10. Kljuic A, Gilead L, Martinez-Mir A et al. A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. Exp Dermatol 2003 12 : 523 7.
11. Keren H, Bergman R, Mizrachi M et al. Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. Arch Dermatol 2005 141 : 625 8.
12. Hunt DM, Rickman L, Whittock NV et al. Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. Eur J Hum Genet 2001 9 : 197 203.
13. Barber AG, Wajid M, Columbo M et al. Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene. J Dermatol Sci 2007 45 : 161 6.
14. Frischmeyer PA, Dietz HC. Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 1999 8 : 1893 900.
15. Kottke MD, Delva E, Kowalczyk AP. The desmosome: cell science lessons from human diseases. J Cell Sci 2006 119 : 797 806.
16. Green KJ, Gaudry CA. Are desmosomes more than tethers for intermediate filaments? Nat Rev Mol Cell Biol 2000 1 : 208 16.
17. Dusek RL, Getsios S, Chen F et al. The differentiation-dependent desmosomal cadherin desmoglein 1 is a novel caspase-3 target that regulates apoptosis in keratinocytes. J Biol Chem 2006 281 : 3614 24.
18. Simpson CL, Getsios S, Sheu L et al. Desmoglein 1 governs subcellular allocation of plakoglobin, coordinating adhesion-dependent and -independent roles in epidermal morphogenesis. J Invest Dermatol 2007 127 : S33.
19. Hakimelahi S, Parker HR, Gilchrist AJ et al. Plakoglobin regulates the expression of the anti-apoptotic protein BCL-2. J Biol Chem 2000 275 : 10905 11.
20. Lippens S, Denecker G, Ovaere P et al. Death penalty for keratinocytes: apoptosis versus cornification. Cell Death Differ 2005 12 (Suppl. 2 1497 508.
21. Wan H, South AP, Hart IR. Increased keratinocyte proliferation initiated through downregulation of desmoplakin by RNA interference. Exp Cell Res 2007 313 : 2336 44.
22. Huber O. Structure and function of desmosomal proteins and their role in development and disease. Cell Mol Life Sci 2003 60 : 1872 90.