Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene

Journal of Pediatrics

Volumn 129, Issue 1, 1996, Pages 56-62

  De Saint Basile, G ^a   Lagelouse, R D ^a   Lambert, N ^a   Schwarz, K ^a   Le Mareck, B ^a   Odent, S ^a   Schlegel, N ^a   Fischer, A ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; ECZEMA; FAMILIAL DISEASE; FEMALE; HETEROZYGOTE; HUMAN; LYMPHOCYTE FUNCTION; MALE; POINT MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; THROMBOCYTOPENIA; WISKOTT ALDRICH SYNDROME; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE;

EID: 0029836850     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(96)70190-7     Document Type: Article

References (20)

1. JJ Chiaro A Dharmkrong-at GE Bloom X-linked thrombocytopenic purpura Am J Dis Child 123 1972 565 568
2. H Stormorken B Hellum T Egeland TG Abrahamsen T Hovig X-linked thrombocytopenia and thrombocytopathia: attenuated Wiskott-Aldrich syndrome Thromb Haemost 65 1991 300 305
3. M Donner M Schwartz K Utas Carlsson L Holmberg Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome Blood 72 1988 1849 1853
4. G de Saint Basile N Schlegel M Caniglia X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers Ann Hematol 63 1991 107 110
5. HD Ochs SJ Slichter LA Harker BW Von RA Clark RJ Wedgwood The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets Blood 55 1980 243 252
6. ML Canales AM Mauer Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome N Engl J Med 277 1967 899 901
7. JMJ Derry HD Ochs U Francke Isolation of a novel gene mutated in Wiskott-Aldrich syndrome Cell 78 1994 635 644
8. G De Saint Basile B Arveiler I Oberlé Close linkage of the locus for X-chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-13 Proc Natl Acad Sci USA 84 1987 7576 7579
9. SP Kwan TL Hagemann BE Radtke RM Blaese FS Rosen 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 1995 4706 4710
10. JP DiSanto A Dautry-Varsat S Certain A Fischer G. de Saint Basile Interleukin-2 (IL-2) receptor γ chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding Eur J Immunol 24 1994 475 479
11. G De Saint Basile L Notarangelo C Bonaiti-Pellie Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27B Hum Genet 89 1992 223 227
12. W Hendriks M De Weers RGJ Mensink Diagnosis of Wiskott-Aldrich syndrome by analysis of the X chromosome inactivation patterns in maternal leucocyte populations using the hypervariable DXS255 locus Clin Exp Immunol 84 1991 219 223
13. JMJ Derry JA Kerns KI Weinberg WASP gene mutations in Wiskott-Aldrich syndrome and X linked thrombocytopenia Hum Mol Genet 4 1995 1127 1135
14. F Vogel R Rattenberg Spontaneous mutation in man H Harris K Hirschhorn Recent advances in human genetics vol 5 1975 : Plenum New York 223 318
15. R Kolluri A Shehabeldin M Peacocke AM Lamhonwah Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus Hum Mol Genet 4 1995 1119 1126
16. M. Kozak An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs Nucl Acids Res 15 1987 8125 8148
17. A Villa L Notarangelo P Macchi X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene Nature Genetics 9 1995 414 417
18. Y Ohta RN Haire RT Litman Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia Proc Natl Acad Sci USA 91 1994 9062 9067
19. ER Fearon DB Kohn JA Winkelstein B Vogelstein RM Blaese Carrier detection in the Wiskott-Aldrich syndrome Blood 72 1988 1735 1740
20. DB Windhorst B Holmes RA Good A newly defined X-linked trait in man with demonstration of the Lyon effect in carrier females Lancet 2 1967 737 739