Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B

British Journal of Dermatology

Volumn 169, Issue 6, 2013, Pages 1322-1325

  Mallet, A ^a   Kypriotou, M ^b   George, K ^b   Leclerc, E ^a   Rivero, D ^b   Mazereeuw Hautier, J ^a   Serre, G ^a   Huber, M ^b   Jonca, N ^a   Hohl, D ^b  

^a CHU PURPAN   (France)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CORNEODESMOSIN; GLYCOPROTEIN; IMMUNOGLOBULIN E; INTERLEUKIN 13; THYMIC STROMAL LYMPHOPOIETIN; UNCLASSIFIED DRUG; CDSN PROTEIN, HUMAN; STOP CODON;

ACANTHOSIS; ADULT; ARTICLE; CASE REPORT; CODON; DERMATITIS; DNA SEQUENCE; ERYTHEMA; EXON; FEMALE; GENE EXPRESSION; GENETIC IDENTIFICATION; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOHISTOCHEMISTRY; INFLAMMATORY INFILTRATE; MUTANT; NONSENSE MUTATION; PEELING SKIN DISEASE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN BIOPSY; SKIN DISEASE; WESTERN BLOTTING; GENETICS; HOMOZYGOTE; MIDDLE AGED; NEWBORN EXFOLIATIVE DERMATITIS; STOP CODON;

CODON, NONSENSE; DERMATITIS, EXFOLIATIVE; FEMALE; GLYCOPROTEINS; HOMOZYGOTE; HUMANS; MIDDLE AGED; SKIN DISEASES, GENETIC;

EID: 84889037334     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.12593     Document Type: Article

References (15)

1. Cassidy AJ, Van Steensel MA, Steijlen PM, et al,. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Am J Hum Genet 2005; 77: 909-17.
2. Krunic AL, Stone KL, Simpson MA, McGrath JA,. Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. Pediatr Dermatol 2013; 30: e87-8.
3. Cabral RM, Kurban M, Wajid M, et al,. Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics 2012; 99: 202-8.
4. Jonca N, Leclerc EA, Caubet C, et al,. Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses. Eur J Dermatol 2011; 21 (Suppl. 2): 35-42.
5. Simon M, Jonca N, Guerrin M, et al,. Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation. J Biol Chem 2001; 276: 20292-9.
6. Leclerc EA, Huchenq A, Mattiuzzo NR, et al,. Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction. J Cell Sci 2009; 122: 2699-709.
7. Oji V, Eckl KM, Aufenvenne K, et al,. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet 2010; 87: 274-81.
8. Yang T, Liang D, Koch PJ, et al,. Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice. Genes Dev 2004; 18: 2354-8.
9. Mevorah B, Frenk E, Saurat JH, Siegenthaler G,. Peeling skin syndrome: a clinical, ultrastructural and biochemical study. Br J Dermatol 1987; 116: 117-25.
10. Israeli S, Zamir H, Sarig O, et al,. Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol 2011; 131: 779-81.
11. Mazereeuw-Hautier J, Leclerc EA, Simon M, et al,. A novel mutation in CDSN causes peeling skin disease in a patient from Morocco. Br J Dermatol 2011; 165: 1152-5.
12. Telem DF, Israeli S, Sarig O, Sprecher E,. Inflammatory peeling skin syndrome caused a novel mutation in CDSN. Arch Dermatol Res 2012; 304: 251-5.
13. Levy-Nissenbaum E, Betz RC, Frydman M, et al,. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet 2003; 34: 151-3.
14. Davalos NO, Garcia-Vargas A, Pforr J, et al,. A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. Br J Dermatol 2005; 153: 1216-9.
15. Caubet C, Bousset L, Clemmensen O, et al,. A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. FASEB J 2010; 24: 3416-26.