Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome

Human Genetics

Volumn 98, Issue 6, 1996, Pages 685-690

  Greer, Wenda L ^a   Shehabeldin, Amro ^b   Schulman, Jerry ^b   Junker, Anne ^c   Siminovitch, Katherine A ^b  

^a DALHOUSIE UNIVERSITY   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO TERMINAL SEQUENCE; ARTICLE; CLINICAL ARTICLE; DISEASE SEVERITY; FEMALE; GENE; GENOTYPE; HUMAN; IMMUNE DEFICIENCY; MALE; MISSENSE MUTATION; MUTATION RATE; PHENOTYPE; PRIORITY JOURNAL; THROMBOCYTOPENIA; WISKOTT ALDRICH SYNDROME; X CHROMOSOME; X CHROMOSOME LINKAGE;

CHILD; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; MALE; PHENOTYPE; PROTEINS; THROMBOCYTOPENIA; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

VESPIDAE;

EID: 0029998118     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050285     Document Type: Article

References (36)

1. Aepfelbacher M, Vauti F, Weber PC, Glomset JA (1994) Spreading of differentiating human monocytes is associated with a major increase in membrane-bound cdc42. Proc Natl Acad Sci USA 91:4263-4267
2. Aldrich RA, Steinberg AG, Campbell DC (1954) Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Paediatrics 12:133-138
3. Amaya CA, Dorantes S, Toro AH, Bello A, Cueller J (1973) Attenuated form of Wiskott-Aldrich syndrome. J Pediatr 83: 1975-1976
4. Aspenstrom P, Lindberg U, Hall A (1996) Two GTPases, cdc42 and Rac, bind directly to a protein implicated in the immunodeficiency disorder Wiskott-Aldrich syndrome. Curr Biol 6: 70-75
5. Cooper MD, Chase HP, Lowman JT, Krivit W, Good RA (1968) The Wiskott-Aldrich syndrome: an immunologic deficiency disease involving the afferent limb of immunity. Am J Med 44: 499-513
6. Cotelingam JD, Witebsky FG, Hsu SM, Blaese RM, Jaffe ES (1985) Malignant lymphoma in patients with the Wiskott-Aldrich syndrome. Cancer Invest 3:515-522
7. Dean M, Santis G (1994). Heterogeneity in the severity of cystic fibrosis and the role of CFTR mutations. Hum Genet 93:364-368
8. Derry JMJ, Ochs HD, Francke U (1994a) Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78:635-644
9. Derry JMJ, Ochs HD, Francke U (1994b) Erratum. Cell 79:923
10. Derry JMJ, Kerns JA, Weinberg KI, Ochs HD, Volpini V, Estivill X, Walker AP, Francke U (1995) WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Hum Mol Genet 4:1127-1135
11. Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ Jr, Corson GM, Maslen CL, Sakai LV, Francomano CA, Cutting GR (1992) Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J Clin Invest 89:1674-1680
12. Gertler FB, Comer AR, Juang J-L, Ahern SM, Clark MJ, Liebl EC, Hoffman FM (1995) enabled, a dosage-sensitive suppressor of mutations in the Drosophila Abl tyrosine kinase, encodes and Abl substrate with SH3 domain-binding properties. Genes Dev 9:521-533
13. Grottum KA, Hovig T, Holmsen H, Abrahamsen AF, Jeremic M, Seip M. (1969) Wiskott-Aldrich syndrome: qualitative platelet defects and short survival. Br J Haematol 17:373-388
14. Johnson DI, Pringle JR (1990). Molecular characterization of cdc42, a Saccharomyces cerevisiae gene involved in the development of cell polarity. J Cell Biol 111:143-152
15. Kolluri R, Shehabeldin A, Peacocke M, Lamhonwah M, Teichert-Kuliszewska K, Weissman SM, Siminovitch KA (1995) Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. Hum Mol Genet 4:1119-1126
16. Krivit W, Good RA (1959) Aldrich's syndrome (thrombocytopenia, eczema and infection in infants). AMAJ Dis Child 97:137-153
17. Kwan SP, Hagemann TL, Blaese RM, Knutsen A, Rosen FS (1995a) 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 4:1995-1998
18. Kwan SP, Hagemann TL, Radtke BE, Blaese RM, Rosen FS (1995b) Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940 adjacent to the disease gene. Proc Natl Acad Sci USA 92:4706-4710
19. Marone G, Albini F, Martino L, et al (1986) The Wiskott-Aldrich syndrome: studies of platelets, basophils and polymorphonuclear leucocytes. Br J Haematol 62:737-745
20. Nobes CD, Hall A (1995) Rho, rac, and cdc42 GTPases regulate the assembly of multimolecular focal complexes associated with actin stress fibers, lamellipodia, and filopodia. Cell 81:53-62
21. Ochs HD, Slichter SJ, Harker LA, Brehrens WE von, Clark RA, Wedgewood RJ (1980) The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes and platelets. Blood 55:243-252
22. Oppenheim JJ, Blaese RM, Waldmann TA (1970) Defective lymphocyte transformation and delayed hypersensitivity in Wiskott-Aldrich syndrome. J Immunol 104:835-844
23. Peacocke M, Siminovitch KA (1987) Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X-chromosome. Proc Natl Acad Sci USA 84:3430-3434
24. Perry GS, Spector BD, Schuman LM, et al. (1980) The Wiskott-Aldrich syndrome in the United States and Canada. J Pediatr 97:72-78
25. Reinhard M, Ciehl K, Abel K, Haffner C, Jarchau T, Hoppe V, Jockusch BM, Walter A (1995). The proline-rich focal adhesion and micorfilament protein VASP is a ligand for profilins. EMBO J 14:1583-1589
26. Rosen FS, Wedgwood RJ, Aiuti F, Cooper MD, Good RA, Hanson LA, Hitzig WH, Matsumoto S, Seligmann S, Soothill JF, Waldmann TA (1983) Primary immunodeficiency diseases: report prepared for the World Health Organization by a scientific group on immunodeficiency. Clin Immunol Immunopathol 28:450-475
27. Schindelhauer D, Weiss M, Hellebrand H, Golla A, Hergersberg M, Seger R, Belohradsky BH, Meindl A (1996) Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the ammo-terminal part of the WASP gene product. Hum Genet 98:68-76
28. Siminovitch KA, Greer WL, Novogrodsky A, Axelsson B, Somani AK, Peacocke M (1995) A diagnostic assay for the Wiskott-Aldrich syndrome and its variant forms. J Invest Med 43:159-169
29. Spitler LE, Levin AS, Stites DP, Fudenberg HH, Huber H (1975) The Wiskott-Aldrich syndrome: immunologic studies in nine patients and selected family members. Cell Immunol 19:201-218
30. Standen GR (1988) Wiskott-Aldrich syndrome: new perspectives in pathogenesis and management. J R Coll Physicians Lond 22:80-83
31. Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA (1994) A multi-institutional survey of the Wiskott-Aldrich syndrome. J Pediatr 125:876-885
32. Symons M, Derry JMJ, Karlak B, Jiang S, Lemahieu V, McCormick F, Francke U, Abo A (1996). Wiskott-Aldrich syndrome protein, a novel effector for the GTPase cdc42Hs, is implicated in actin polymerization. Cell 84:723-734
33. Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina S, Patrosso MC, Ramenghi U, Sacco MG, Ugazio A, Vezzoni P (1995) X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 9:414-417
34. Wengler GS, Notarangelo LD, Berardelli S, Pollonni G, Mella P, Fasth A, Ugazio AG, Parolini O. (1995) High prevalence of nonsense, frame shift and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome. Blood 86:3648-3654
35. Wolff JA (1967) Wiskott-Aldrich syndrome: clinical, immunologic, and pathologic observations. J Pediatr 70:221-232
36. Zhu Q, Zheng M, Blaese RM, Derry JMJ, Junker A, Francke U, Chen SH, Ochs, HD (1995) The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations in the same gene. Blood 86:3797-3804