Ectodermal dysplasia-skin fragility syndrome: A novel mutation in the PKP1 gene

Clinical and Experimental Dermatology

Volumn 38, Issue 7, 2013, Pages 787-790

  Hernandez Martin A ^a   Torrelo, A ^a   Ciria, S ^b   Colmenero, I ^a   Aguilar, A ^c   Grimalt, R ^d   Gonzalez Sarmiento R ^b  

^a HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^b UNIVERSITY OF SALAMANCA   (Spain)

^c Hospital de Leganes   (Spain)

^d HOSPITAL CLÍNIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

PLAKOPHILIN; PLAKOPHILIN 1; RNA DIRECTED DNA POLYMERASE; UNCLASSIFIED DRUG;

ACANTHOLYSIS; ADOLESCENT; ALOPECIA; ARTICLE; BODY SURFACE; CASE REPORT; CHEEK SCAR; CONGENITAL MALFORMATION; DESMOSOME; ECTODERMAL DYSPLASIA; EPIDERMIS CELL; EROSION; ERYTHEMA; EXON; EYEBROW; EYELASH; FINGER NAIL ABNORMALITY; GENE MUTATION; HAIR; HISTOLOGY; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; INGUINAL EROSION; INTERCELLULAR SPACE; INTRON; INTRON 6; KERATINOCYTE; MALE; MICROSCOPY; MOUTH EROSION; MUTATIONAL ANALYSIS; PALMOPLANTAR KERATODERMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PRURITUS; SCALP HAIR; SCANNING ELECTRON MICROSCOPY; SCAR; SKIN BIOPSY; SKIN FRAGILITY; STOP CODON; TOENAIL ABNORMALITY; TONOFILAMENT; TRANSMISSION ELECTRON MICROSCOPY; TRICHORRHEXIS; X RAY MICROANALYSIS; ZINC BLOOD LEVEL;

ADOLESCENT; ECTODERMAL DYSPLASIA; FRAMESHIFT MUTATION; HUMANS; INTRONS; MALE; PLAKOPHILINS; SKIN DISEASES, GENETIC;

EID: 84884853681     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/ced.12109     Document Type: Article

References (10)

1. McGrath JA, McMillan JR, Shemanko CS, et al,. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 1997; 17: 240-4.
2. Whittock NV, Haftek M, Angoulvant N, et al,. Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. J Invest Dermatol 2000; 115: 368-74.
3. McGrath JA, Hoeger PH, Christiano AM, et al,. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1. Br J Dermatol 1999; 140: 297-307.
4. Bergman R, Sprecher E,. Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome. Am J Dermatopathol 2005; 27: 333-8.
5. Hamada T, South AP, Mitsuhashi Y, et al,. Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. Exp Dermatol 2002; 11: 107-14.
6. Sprecher E, Molho-Pessach V, Ingber A, et al,. Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families. J Invest Dermatol 2004; 122: 647-51.
7. Steijlen PM, Van Steensel MA, Jansen BJ, et al,. Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene. J Invest Dermatol 2004; 122: 1321-4.
8. Zheng R, Bu DF, Zhu XJ,. Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. Acta Derm Venereol 2005; 85: 394-8.
9. Ersoy-Evans S, Erkin G, Fassihi H, et al,. Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J Am Acad Dermatol 2006; 55: 157-61.
10. 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.