Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma

Chinese Journal of Medical Genetics

Volumn 21, Issue 6, 2004, Pages 570-573

  Zhang, Bao Rong ^a   Yin, Xin Zhen ^a   Xia, Kun ^a   Ding, Mei Ping ^a   Hu, Zheng Mao ^a   Zheng, Min ^b   Liu, Zhi Rong ^a   Xia, Jia Hui ^a  

^a ZHEJIANG UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Epidermolytic palmoplantar keratoderma; Keratin 9 gene; Mutation detection

Indexed keywords

GENOMIC DNA; KERATIN; KERATIN 9; RESTRICTION ENDONUCLEASE; UNCLASSIFIED DRUG;

ARTICLE; CHINESE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; EPIDERMOLYTIC PALMOPLANTAR KERATODERMA; EXON; FAMILY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; INTRON; KERATODERMA; MALE; MUTATIONAL ANALYSIS; NAIL DISEASE; PEDIGREE; POLYMERASE CHAIN REACTION;

ASIAN CONTINENTAL ANCESTRY GROUP; CODON; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KERATINS; KERATODERMA, PALMOPLANTAR; MALE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 10644268665     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. Reis A, Kuster W, Eckardt R, et al. Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21. Hum Genet, 1992, 90: 113-116.
2. Reis A, Hennies HC, Langbein L, et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet, 1994, 6: 174-179.
3. Hennies HC, Zehender D, Kunze J, et al. Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. Hum Genet, 1994, 93: 649-654.
4. Covello SP, Irvine AD, McKenna KE, et al. Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. J Invest Dermatol, 1998, 111: 1207-1209.
5. Endo H, Hatamachi A, Shinkai H. A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. J Invest Dermatol, 1997, 109: 113-115.
6. Bonifas JM, Matsumura K, Chen MA, et al. Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. J Invest Dermatol, 1994, 103: 474-477.
7. Torchard D, Blanchet-Bardon C, Serova O, et al. Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. Nat Genet, 1994, 6: 106-110.
8. Lu Y, Guo CH, Liu QJ, et al. A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. Am J Med Genet, 2003, 120A: 345-349.
9. Rothnagel JA, Wojcik S, Liefer KM, et al. Mutations in the 1A domain of keratin in patients with epidermolytic palmoplantar keratoderma. J Invest Dermatol, 1995, 104: 430-433.
10. Szalai S, Szalai C, Becker K, et al. Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma. Pediatr Dermatol, 1999, 16: 430-433.
11. Rugg EL, Common JE, Wilgoss A, et al. Diagonsis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography. Br J Dermatol, 2002, 146: 952-957.
12. Coleman CM, Munro CS, Smith FJ, et al. Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif. Br J Dermatol, 1999, 140: 486-490.
13. Liu JH, Lin MH, Yang MH, et al. A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma. Clin Exp Dermatol, 2004, 29: 308-310.
14. He XH, Zhang XN, Mao W, et al. A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma. Br J Dermatol, 2004, 150: 647-651.
15. Kuster W, Reis A, Hennies HC. Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's original family and identification of a novel keratin 9 mutation. Arch Dermatol Res, 2002, 294: 268-272.
16. Conway JF, Parry DAD. Intermediate filament structure: 3 analyses of sequence homologies. Im J Biol Macromol, 1988, 10: 79-98.
17. Steinert PM, Markekov LN, Fraser RDB, et al. Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly. J Mol Biol, 1993, 230: 436-452.
18. Kelsell DP, Stevens HP. The palmoplantar keratodermas: much more than palms and soles. Mol Med Tod, 1999, 5: 107-113.