X-linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3

American Journal of Human Genetics

Volumn 66, Issue 2, 2000, Pages 461-468

  Bennett, Craig L ^a   Yoshioka, Ritsuko ^b   Kiyosawa, Hidenori ^c   Barker, David F ^d   Fain, Pamela R ^e   Shigeoka, Ann O ^d   Chance, Phillip F ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b KANAZAWA MEDICAL UNIVERSITY   (Japan)

^c FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^d UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^e UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME MAP; CHROMOSOME XP; CLINICAL FEATURE; CONTROLLED STUDY; DIARRHEA; ENDOCRINE DISEASE; GENE MUTATION; GENETIC LINKAGE; HUMAN; IMMUNOPATHOLOGY; NORTHERN BLOTTING; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKED DISORDER;

EID: 0033928382     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302761     Document Type: Article

References (24)

1. Brooks EG, Schmalstieg FC, Wirt DP, Rosenblatt HM, Adkins LT, Lookingbill DP, Rudloff HE, et al (1990) A novel X-linked combined immunodeficiency disease. J Clin Invest 86: 1623-1631
2. Colletti RB, Guillot AP, Rosen S, Bhan AK, Hobson CD, Collins AB, Russell GJ, et al (1991) Autoimmune enteropathy and nephropathy with circulating anti-epithelial cell anti-bodies. J Pediatr 118:858-864
3. Derry JM, Ochs HD, Francke U (1994) Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78: 635-644 (erratum; Cell 79:923)
4. Derry JM, Wiedemann P, Blair P, Wang Y, Kerns JA, Lemahieu V, Godfrey VL, et al (1995) The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome. Genomics 29:471-477
5. De Saint Basile G, Lagelouse RD, Lambert N, Schwarz K, Le Mareck B, Odent S, Schlegel N, et al (1996) Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. J Pediatr 129:56-62
6. Ellis D, Fisher SE, Smith WI, Jaffe R (1982) Familial occurrence of renal and intestinal disease associated with tissue autoantibodies. Am J Dis Child 136:323-326
7. Hagemann TL, Kwan SP (1999) The identification and characterization of two promoters and the complete genomic sequence for the Wiskott-Aldrich syndrome gene. Biochem Biophys Res Commun 256:104-109
8. Kirchhausen T (1998) Wiskott-Aldrich syndrome: a gene, a multifunctional protein and the beginnings of an explanation. Mol Med Today 4:300-304
9. Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498
10. Levy-Lahad E, Kapur R, Wildin RS (1993) Further evidence for a lethal X-Iinked syndrome of enteropathy, diabetes mellitus and endocrinopathy: DIETER syndrome. Am J Hum Genet Suppl 53:467A
11. Lyon MF, Peters J, Glenister PH, Ball S, Wright E (1990) The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome. Proc Natl Acad Sci USA 87:2433-2437
12. Mitton SG, Mirakian R, Larcher VF, Dillon MJ, Walker-Smith JA (1989) Enteropathy and renal involvement in an infant with evidence of widespread autoimmune disturbance. J Pediatr Gastroenterol Nutr 8:397-400
13. Nonoyama S (1998) Mutation of WASP in Wiskott-Aldrich syndrome and its effect on megakaryopoiesis. Rinsho Ketsueki 39:133-134
14. Ochs HD (1998) The Wiskott-Aldrich syndrome. Semin Hematol 35:332-345
15. Perry GSD, Spector BD, Schuman LM, Mandel JS, Anderson VE, McHugh RB, Hanson MR, et al (1980) The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979). J Pediatr 97:72-78
16. Powell BR, Buist NR, Stenzel P (1982) An X-Iinked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 100:731-737
17. Schindelhauer D, Weiss M, Hellebrand H, Golla A, Hergersberg M, Seger R, Belohradsky BH, et al (1996) 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 98: 68-76
18. Seidman EG, Lacaille F, Russo P, Galeano N, Murphy G, Roy CC (1990) Successful treatment of autoimmune enteropathy with cyclosporine. J Pediatr 117:929-932
19. Shigeoka AO, Chance PF, Fain P, Barker DF, Book LS, Rallison ML (1993) An X-linked T cell activation syndrome maps near the Wiskott-Aldrich locus Xp11.2: diarrhea, respiratory infections, autoimmune disease and endoerinopathies in the ahsence of platelet defects. Clin Res Suppl 41:41A
20. Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA (1994) A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 125:876-885
21. Tassara C, Pepper AE, Puck JM (1995) Intronic point mutation in the IL2RG gene causing X-Iinked severe combined immunodeficiency. Hum Mol Genet 4:1693-1695
22. Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, et al (1995) X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 9:414-417
23. Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, Aruffo A, et al (1997) Wiskott-Aldrich syndrome/ X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood 90:2680-2689
24. Zhu Q, Zhang M, Blaese RM, Derry JM, Junker A, Francke U, Chen SH, et al (1995) The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood 86:3797-3804