Analysis of c-kit exon 11 and exon 17 of urticaria pigmentosa that occurred in monozygotic twin sisters

British Journal of Dermatology

Volumn 140, Issue 6, 1999, Pages 1130-1132

  Sato Matsumura, K C ^a   Matsumura, T ^a   Koizumi, H ^a   Sato, H ^b   Nagashima, K ^a   Ohkawara, A ^a  

^a HOKKAIDO UNIVERSITY   (Japan)

^b Obihiro Kosei Hospital   (Japan)

Author keywords

Mastocytosis; Monozygotic twins; Proto oncogene c kit; Somatic mutation; Urticaria pigmentosa

Indexed keywords

DNA; STEM CELL FACTOR RECEPTOR;

ARTICLE; CASE REPORT; EXON; FEMALE; GENE MUTATION; HUMAN; INFANT; MONOZYGOTIC TWINS; PATHOGENESIS; PRIORITY JOURNAL; URTICARIA PIGMENTOSA;

ADULT; DISEASES IN TWINS; EXONS; FEMALE; HUMANS; MUTATION; PROTO-ONCOGENE PROTEINS C-KIT; SEQUENCE ANALYSIS, DNA; TWINS, MONOZYGOTIC; URTICARIA PIGMENTOSA;

EID: 0033031880     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.1999.02890.x     Document Type: Article

References (15)

1. 1 Pec J, Palencarova E, Malisova S et al. Urtícaría pígmentosa in identical male twins. Acta Derm Venereol (Stockh) 1995; 75: 244.
2. 2 Yarden Y, Kuang WJ. Yang-Feng T et al. Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO J 1987; 6: 3341-51.
3. 3 Kirshenbaum AS, Goff JP, Kessler SW et al. Effect of IL-3 and stem cell factor on the appearance of human basophils and mast cells from CD34+ pluripotent progenitor cells. J Immunol 1992; 148: 772-7.
4. 4 Furitsu T, Tsujimura T, Tono T et al. Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. J Clin Invest 1993; 92: 1736-44.
5. 5 Nagata H, Worobec AS, Oh CK et al. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci USA 1995; 92: 10560-4.
6. 6 Longley BJ, Tyrrell L, Lu SZ et al. Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. Nat Genet 1996; 12: 312-14.
7. 7 Longley BJ, Tyrrell L, Lu SZ et al. Chronically KlT-stimulated clonally-derived human mast cells show heterogeneity in different tissue microenvironments. J Invest Dermatol 1997; 108: 792-6.
8. 8 Nagata H, Okada T, Worobec AS et al. c-kit mutation in population of patients with mastocytosis. Int Arch Allergy Immunol 1997; 113: 184-6.
9. 9 Worobec AS, Fosler BA, Semere T et al. Identilication of the mutation Asp816Tyr in the c-kit receptor in an adult patient with urticaria pigmentosa from birth. J Allergy Clin Immunol 1998; 101: S215.
10. 10 Sambrook J, Fritsch T, Maniatis T. Analysis and cloning of eukaryotic genomic DNA. In: Molecular Cloning: a Laboratory Manual. 2nd edn, Vol. 2. Cold Spring Harbor, NY: Cold Spring, Harbor Laboratory Press, 1989: 916-919.
11. 11 Giebel LB, Strunk KM, Holmes SA, Spritz RA. Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene. Oncogene 1992; 7: 2207-17.
12. 12 Kösel S, Graeber MB. Use of neuropathological tissue for molecular genetic studies: parameters affecting DNA extraction and polymerase chain reaction. Acta Neuropathol 1994; 88: 19-25.
13. 13 Metcalfe DD. Classification and diagnosis of mastocytosis: current status. J Invest Dermatol 1991; 96: 2S-4S.
14. 14 Cainelli T, Marchesi L, Pasquali F, Rozzoni M. Monozygotic twins discordant for cutaneous mastocytosis. Arch Dermatol 1983; 119: 1021-2.
15. 15 Golkar L, Bernhard JD, Mastocytosis. Lancet 1997; 349: 1379-85.