Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree

Journal of the European Academy of Dermatology and Venereology

Volumn 23, Issue 9, 2009, Pages 1079-1082

  Liu, X P ^a   Ling, J ^a   Xiong, H ^d   Shi, X L ^b   Sun, X ^a   Pan, Q ^a   Hu, Z M ^a,c   Wu, L Q ^a   Liang, D S ^a   Long, Z G ^a   Dai, H P ^a   Xia, J H ^a   Xia, K ^a,c  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c CENTRAL SOUTH UNIVERSITY   (China)

^d FUDAN UNIVERSITY   (China)

Author keywords

Diffuse palmoplantar keratoderma; Intermediate filament; Keratin 1; L437P mutant

Indexed keywords

CYTOKERATIN 1;

ARTICLE; CHINESE; CLINICAL ARTICLE; DIFFUSE PALMOPLANTAR KERATODERMA; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; INTERMEDIATE FILAMENT; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SITE DIRECTED MUTAGENESIS;

CHINA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTERMEDIATE FILAMENTS; KERATIN-1; KERATODERMA, PALMOPLANTAR, DIFFUSE; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE;

EID: 68749091392     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2009.03175.x     Document Type: Article

References (18)

1. Itin PH, Fistarol SK. Palmoplantar keratodermas. Clin Dermatol 2005 23 : 15 22.
2. Reis A, Hennies HC, Langbein L et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet 1994 7 : 174 179.
3. Hennies HC, Zehender D, Kunze J, Küster W, Reis A. Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. Hum Genet 1994 93 : 649 654. (Pubitemid 24166490)
4. Hatsell SJ, Eady RA, Wennerstrand L et al. Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. J Invest Dermatol 2001 116 : 606 609.
5. Terron-Kwiatkowski A, Terrinoni A, Didona B et al. Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. Br J Dermatol 2004 150 : 1096 1103. (Pubitemid 38932278)
6. Terron-Kwiatkowski A, van Steensel MA, van Geel M, Lane EB, McLean WH, Steijlen PM. Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with 'tonotubular' keratin. J Invest Dermatol 2006 126 : 607 613.
7. Kimonis V, DiGiovanna JJ, Yang JM, Doyle SZ, Bale SJ, Compton JG. A mutation in the V1 end domain of keratin1 in non-epidermolytic palmar-plantar keratoderma. J Invest Dermatol 1994 103 : 764 769.
8. Shamsher MK, Navsaria HA, Stevens HP et al. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. Hum Mol Genet 4 : 1875 1881.
9. Keren H, Bergman R, Mizrachi M, Kashi Y, Sprecher E. Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. Arch Dermatol 2005 141 : 625 628.
10. McKoy G, Protonotarios N, Crosby A et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000 355 : 2119 2124.
11. Terron-Kwiatkowski A, Paller AS, Compton J, Atherton DJ, McLean WH, Irvine AD. Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. J Invest Dermatol 2002 119 : 966 971.
12. 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 118 : 838 844.
13. Rothnagel JA, Dominey AM, Dempsey LD et al. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 1992 257 : 1128 1130.
14. Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG. A leucine-proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell 1992 70 : 821 828.
15. Virtanen M, Gedde-Dahl T Jr., Mörk NJ, Leigh I, Bowden PE, Vahlquist A. Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression. Acta Derm Venereol 2001 81 : 163 170.
16. Sprecher E, Ishida-Yamamoto A, Becker OM. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. J Invest Dermatol 2001 116 : 511 519.
17. Richardson ES, Lee JB, Hyde PH, Richard G. A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. J Invest Dermatol 2006 126 : 79 84.
18. Szeverenyi I, Cassidy AJ, Chung CW et al. The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases. Hum Mutat 2008 29 : 351 360.