Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair

British Journal of Dermatology

Volumn 166, Issue 4, 2012, Pages 894-896

  Smith, F J D ^a   Wilson, N J ^a   Moss, C ^b   Dopping Hepenstal, P ^c   McGrath, J ^d  

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOPLAKIN; DESMOSOMAL CADHERIN; PLAKOPHILIN;

BLISTER; CASE REPORT; CHILD; CODON; CONGENITAL PACHYONYCHIA; CYTOPLASM; DNA FLANKING REGION; DNA SEQUENCE; ELECTRON MICROSCOPY; EYELASH; FOOT SOLE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC VARIABILITY; HAIR DISEASE; HAND PALM; HETEROZYGOTE; HUMAN; HYPERKERATOSIS; IMMUNOHISTOCHEMISTRY; KERATINOCYTE; KERATODERMA; LETTER; MALE; MISSENSE MUTATION; MOUTH; NAIL DYSTROPHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCALP; SKIN BIOPSY; SKIN FRAGILITY;

CHILD, PRESCHOOL; DESMOPLAKINS; EPIDERMOLYSIS BULLOSA; FRAMESHIFT MUTATION; HAIR DISEASES; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE;

EID: 84859160559     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2011.10664.x     Document Type: Letter

References (10)

1. Green KJ, Gaudry CA,. Are desmosomes more than tethers for intermediate filaments? Nat Rev Mol Cell Biol 2000; 1: 208-16.
2. Lai-Cheong JE, Arita K, McGrath JA,. Genetic diseases of junctions. J Invest Dermatol 2007; 127: 2713-25.
3. Whittock NV, Ashton GH, Dopping-Hepenstal PJ, et al. Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol 1999; 113: 940-6.
4. Whittock NV, Wan H, Morley SM, et al. Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 2002; 118: 232-8.
5. Cabral RM, Wan H, Cole CL, et al. Identification and characterization of DSPIa, a novel isoform of human desmoplakin. Cell Tissue Res 2010; 341: 121-9.
6. Tanaka A, Lai-Cheong JE, Cafe ME, et al. Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families. Br J Dermatol 2009; 160: 692-7.
7. Mahoney MG, Sadowski S, Brennan D, et al. Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol 2010; 130: 968-78.
8. Asimaki A, Syrris P, Ward D, et al. Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations. J Cutan Pathol 2009; 36: 553-9.
9. Al-Owain M, Wakeel S, Shareef F, et al. Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes. Clin Genet 2011; 80: 50-8.
10. Norgett EE, Lucke TW, Bowers B, et al. Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. J Invest Dermatol 2006; 126: 1651-4.