A novel mutation in the 1A domain of keratin 2e in Ichthyosis bullosa of Siemens

Journal of Investigative Dermatology

Volumn 112, Issue 3, 1999, Pages 380-382

  Arin, Meral J ^a   Longley, Mary A ^a   Epstein Jr , Ervin H ^b   Scott, Glynis ^c   Goldsmith, Lowell A ^c   Rothnagel, Joseph A ^a,d   Roop, Dennis R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^d UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

Genodermatosis; Ichthyosis bullosa of Siemens; Intermediate filaments; Keratin 2e

Indexed keywords

DNA; KERATIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BULLOUS SKIN DISEASE; CHROMOSOME 12Q; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENODERMATOSIS; HUMAN; HUMAN CELL; ICHTHYOSIS; INTERMEDIATE FILAMENT; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0032982077     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00529.x     Document Type: Article

References (16)

1. Bonifas JM, Bare JW, Chen MA, Lee MK, Slater CA, Goldsmith LA, Epstein EH: Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12q. J Invest Dermatol 99:524-527, 1992
2. Collin C, Moll R, Kubicka S, Ouhayoun J-P, Franke WW: Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation. Exp Cell Res 202:132-141, 1992
3. Corden LD, McLean WHI: Human keratin diseases. Hereditary fragility of specific epithelial tissues. Exp Dermatol 5:297-307, 1996
4. Hatzfeld M, Weber K: Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence of the C-terminal end of the rod domain. J Cell Sci 99:351-362, 1991
5. Jones DO, Watts C, Mills C, Sharpe G, Marks R, Bowden PE: A new keratin 2e mutation in ichthyosis bullosa of Siemens. J Invest Dermatol 108:354-356, 1997
6. Kremer H, Zeeuwen P, McLean WHI, et al: Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. J Invest Dermatol 103:286-289, 1994
7. McLean WHI, Morley SM, Lane EB, et al: Ichthyosis bullosa of Siemens: a disease involving keratin 2e. J Invest Dermatol 103:277-281, 1994
8. Reichelt J, Bauer C, Porter RM, Lane EB, Herzog V, Magin TM: Out of balance: consequences of a partial keratin 10 knockout. J Cell Sci 110:2175-2186, 1997
9. Rothnagel JA, Traupe H, Wojcik S, et al: Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nature Genetics 7:485-490, 1994
10. Siemens HW: Dichtung und Wahrheit über die "Ichthyosis bullosa" mit Bemerkungen zur Systematik der Epidermolysen. Arch Dermatol Syph (Berl) 175:590-608, 1937
11. Steijlen PM, Kremer H, Vakilzadeh F, Happle R, Lavrijsen APM, Ropers HH, Mariman ECM: Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa. J Invest Dermatol 103:282-285, 1994
12. Steinert PM: Structure, function, and dynamics of keratin intermediate filaments. J Invest Dermatol 100:729-734, 1993
13. Steinert PM, Marekov LN, Fraser RDB, Parry DAD: Keratin intermediate filament structure: crosslinking studies yield quantitative information on molecular dimensions and mechanisms of assembly. J Mol Biol 230:436-452, 1993
14. Steinert PM, Roop DR: Molecular and cellular biology of intermediate filaments. Ann Rev Biochem 57:593-625, 1988
15. Traupe H, Kolde G, Hamm H, Happle R: Ichthyosis bullosa of Siemens: a unique type of epidermolytic hyperkeratosis. J Am Acad Dermatol 14:1000-1005, 1986
16. Yang J-M, Lee S, Bang H-D, Kim W-S, Lee E-S, Steinert PM: A novel threonine to proline mutation at the end of the 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens. J Invest Dermatol 109:116-118, 1997