Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1

Journal of the American Academy of Dermatology

Volumn 55, Issue 1, 2006, Pages 157-161

  Ersoy Evans, Sibel ^a   Erkin, Gül ^a   Fassihi, Hiva ^c   Chan, Ien ^c   Paller, Amy S ^d   Sürücü, Selçuk ^b   McGrath, John A ^c  

^a HACETTEPE UNIVERSITY   (Turkey)

^b Anatomy   (Turkey)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; NUCLEOTIDE; PLAKOPHILIN 1; UNCLASSIFIED DRUG; ZINC;

ALOPECIA; ARTICLE; CASE REPORT; CELL ADHESION; CELL COUNT; CLINICAL FEATURE; DESMOSOME; DNA DETERMINATION; DNA POLYMORPHISM; ECTODERM; ECTODERMAL DYSPLASIA; EPIDERMIS; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENODERMATOSIS; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; INTERCELLULAR SPACE; KERATODERMA; MALE; NAIL DYSTROPHY; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; SKIN BIOPSY; SKIN FRAGILITY; SKIN REDNESS;

CHILD; ECTODERMAL DYSPLASIA; HOMOZYGOTE; HUMANS; MALE; MUTATION; PLAKOPHILINS;

EID: 33744983767     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2005.10.002     Document Type: Article

References (12)

1. McGrath J.A., McMillan J.R., Shemanko C.S., Runswick S.K., Leigh I.M., Lane E.B., et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 17 (1997) 241-244
2. McGrath J.A., Hoeger P.H., Christiano A.M., McMillan J.R., Mellerio J.E., Ashton G.H.S., et al. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1. Br J Dermatol 140 (1999) 297-307
3. Whittock N.V., Haftek M., Angoulvant N., Wolf F., Perrot H., Eady R.A.J., 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 15 (2000) 368-374
4. Hamada T., South A.P., Mitsuhashi Y., Kinebucji T., Bleck O., Ashton G.H.S., et al. Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. Exp Dermatol 11 (2002) 107-114
5. Sprecher E., Molho-Pessach V., Ingber A., Sagi E., Indelman M., and Bergman R. 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 122 (2004) 647-651
6. Steijlen P.M., van Steensel M.A., Jansen B.J., Blokx W., van de Kerkhof P.C., Happle R., 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 122 (2004) 1321-1324
7. 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;85:394-9.
8. South A.P. Plakophilin 1: an important stabilizer of desmosomes. Clin Exp Dermatol 29 (2004) 161-167
9. Moll I., Kurzen H., Langbein L., and Franke W.W. The distribution of the desmosomal protein, plakophilin 1, in human skin and skin tumors. J Invest Dermatol 108 (1997) 139-146
10. Kury S., Dreno B., Bezieau S., Giraudet S., Kharfi M., Kamoun R., et al. Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. Nat Genet 31 (2002) 239-240
11. McMillan J.R., and Shimizu H. Desmosomes: structure and function in normal and diseased epidermis. J Dermatol 28 (2001) 291-298
12. Gerull B., Heuser A., Wichter T., Paul M., Basson C.T., McDermott D.A., et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythymogenic right ventricular cardiomyopathy. Nat Genet 36 (2004) 1162-1164