Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma: Correspondence

British Journal of Dermatology

Volumn 161, Issue 3, 2009, Pages 692-694

  Zamiri, M ^a,b   Smith, F J D ^c   Campbell, L E ^c   Tetley, L ^b   Eady, R A J ^d   Hodgins, M B ^b   McLean, W H I ^c   Munro, C S ^a  

^a Alan Lyell Centre for Dermatology   (United Kingdom)

^b UNIVERSITY OF GLASGOW   (United Kingdom)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

^d ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Autosomal dominant; Desmoglein 1; Striate palmoplantar keratoderma

Indexed keywords

CYTOKERATIN 1; DESMOGLEIN 1; DESMOPLAKIN;

CLINICAL EXAMINATION; CLINICAL FEATURE; DNA EXTRACTION; ELECTRON MICROSCOPY; FRAMESHIFT MUTATION; GENE SEQUENCE; HUMAN; LETTER; PALMOPLANTAR KERATODERMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN BIOPSY;

ADULT; DESMOGLEIN 1; EPIDERMIS; EXONS; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 69149104095     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09316.x     Document Type: Letter

References (16)

1. Judge MR, McLean WHI, Munro CS. Disorders of keratinisation. In : Rook's Textbook of Dermatology (Burns DA, Breathnach SM, Cox NH, Griffiths CEM, eds 7th edn, Vol. 2. Oxford : Blackwell Publishing, 2004 34.1 111.
2. 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 : 971 976.
3. 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.
4. Armstrong DKB, McKenna KE, Purkis PE et al. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 1999 8 : 143 148.
5. Lai-Cheong JE, Arita K, McGrath JA. Genetic diseases of junctions. J Invest Dermatol 2007 127 : 2713 2725.
6. Hershkovitz D, Lugassy J, Indelman M et al. Novel mutations in DSG1 causing striate palmoplantar keratoderma. Clin Exp Dermatol 2009 34 : 224 228.
7. Dua-Awereh MB, Shimomura Y, Kraemer L et al. Mutations in the desmoglein 1 in five Pakistani families with striate palmoplantar keratoderma. J Dermatol Sci 2009 53 : 192 197.
8. Hayat MA. Chapter 2. Rinsing, dehydrating and embedding. In : Principles and Techniques of Electron Microscopy: Biological Applications Hayat MA, eds). Basingstoke : MacMillan Press, 1989 79 137.
9. Whittock NV, Ashton GH, Dopping-Hepenstal PJ et al. Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol 1999 113 : 940 946.
10. 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 : 117 122.
11. Hamada T, South AP, Mitsuhashi Y et al. Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting in mutations in plakophilin 1. Exp Dermatol 2002 11 : 107 114.
12. 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 : 161 166.
13. 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 : 838 844.
14. Wan H, Dopping-Hepenstal PJC, Gratian MJ et al. Desmosomes exhibit site-specific features in human palm skin. Exp Dermatol 2003 12 : 378 388.
15. Cui Y, Hagan KW, Zhang S, Peltz SW. Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon. Genes Dev 1995 9 : 423 436.
16. Wan H, Dopping-Hepenstal PJC, 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 : 878 891.