Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome

International Journal of Hematology

Volumn 78, Issue 1, 2003, Pages 40-44

  Jo, Eun Kyeong ^a   Futatani, Takeshi ^b   Kanegane, Hirokazu ^b   Kubota, Takeo ^c   Lee, Young Ho ^d   Jung, Jin A ^d   Song, Chang Hwa ^a   Park, Jeong Kyu ^a   Nonoyama, Shigeaki ^e   Miyawaki, Toshio ^b  

^a Chungnam National University   (South Korea)

^b UNIVERSITY OF TOYAMA   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^d Dong A University   (South Korea)

^e NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

Author keywords

Flow cytometry; Mutation; Skewed X inactivation; WASP; Wiskott Aldrich syndrome; X chromosome inactivation

Indexed keywords

ARGININE; PROTEIN; UNCLASSIFIED DRUG; WASP PROTEIN;

ARTICLE; CASE REPORT; CODON; DIAGNOSTIC PROCEDURE; ECZEMA; FLOW CYTOMETRY; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; INFANT; KOREA; LYMPHOCYTE; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PROTEIN EXPRESSION; SKEWED X INACTIVATION; THROMBOCYTOPENIA; WASP GENE; WISKOTT ALDRICH SYNDROME; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

EID: 0042347520     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02983238     Document Type: Article

References (23)

1. Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994;78:635-644.
2. Aldrich RA, Steinburg AG, Campbell DC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics. 1954;13: 133-138.
3. Remold-O'Donnell E, Rosen FS, Kenney DM. Defects in Wiskott-Aldrich syndrome blood cells. Blood. 1996;87:2621-2631.
4. Featherstone C. The many faces of WAS protein. Science. 1997; 275:27-28.
5. Kolluri R, Tolias KF, Carpenter CL, Rosen FS, Kirchhausen T. Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42. Proc Natl Acad Sci U S A. 1996;93:5615-5618.
6. Snapper SB, Rosen FS. The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization. Annu Rev Immunol 1999;17:905-929.
7. Greer WL, Shehabeldin A, Schulman J, Junker A, Siminovitch KA. Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome. Hum Genet. 1996;98:685-690.
8. Kwan SP, Hagemann TL, Blaese RM, Knutsen A, Rosen FS. Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype. Hum Mol Genet. 1995;4:1995-1998.
9. Wengler GS, Notarangelo LD, Berardelli S, et al. High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome. Blood. 1995;86: 3648-3654.
10. Zhu Q, Zhang M, Blaese RM, et al. The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood. 1995;86:3797-3804.
11. Zhu Q, Watanabe C, Liu T, et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood. 1997;90:2680-2689.
12. Kanegane H, Nomura K, Miyawaki T, et al. X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes. Blood. 2000;95: 1110-1111.
13. Sasahara Y, Kawai S, Kumaki S, Ohashi Y, Minegishi M, Tsuchiya S. Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome. Eur J Pediatr. 2000;159: 23-30.
14. Kubota T, Nonoyama S,Tonoki H, et al. A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR. Hum Genet. 1999;104:49-55.
15. Remold-O'Donnell E, Cooley J, Shcherbina A, et al. Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. J ImmunoL 1997;158:4021-4025.
16. Ariga T, Yamada M, Wada T, Saitoh S, Sakiyama Y. Detection of lymphocytes and granulocytes expressing the mutant WASP message in carriers of Wiskott-Aldrich syndrome. Br J Haematol. 1999; 104:893-900.
17. Schindelhauer D, Weiss M, Hellebrand H, et al. Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product. Hum Genet. 1996;98:68-76.
18. Thompson LJ, Lalloz MR, Layton DM. Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Blood Cells Mol Dis. 1999;25:218-226.
19. Kawai S, Minegishi M, Ohashi Y, et al. Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations. J Immunol Methods. 2002;260:195-205.
20. Yamada M, Ohtsu M, Kobayashi I, et al. Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers. Blood. 1999;93: 756-759.
21. Yamaguchi K, Ariga T, Yamada M, et al. Mixed chimera status of 12 patients with Wiskott-Aldrich syndrome (WAS) after hematopoietic stem cell transplantation: evaluation by flow cytometric analysis of intracellular WAS protein expression. Blood. 2002;100: 1208-1214.
22. Wengler G, Gorlin JB, Williamson JM, Rosen FS, Bing DH. Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome. Blood. 1995; 85:2471-2477.
23. Yamada M, Ariga T, Kawamura N, et al. Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells. J Immunol 2000;165: 1119-1122.