Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course

Pediatrics

Volumn 101, Issue 2, 1998, Pages 276-284

  Holinski Feder, Elke ^a   Weiss, Michael ^a   Brandau, Oliver ^a   Jedele, Kerry B ^a   Nore, Beston ^b   Bäckesjö, C Magnus ^b   Vihinen, Mauno ^c   Hubbard, Stevan R ^d   Belohradsky, Bernd H ^a   Smith, C I Edvard ^b   Meindl, Alfons ^a,e  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UNIVERSITY OF HELSINKI   (Finland)

^d NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^e Abt F Pädiatrische Genetik   (Germany)

Author keywords

Bruton's tyrosine kinase; Mutation; X linked agammaglobulinemia

Indexed keywords

PLECKSTRIN; PROTEIN TYROSINE KINASE;

ARTICLE; CONTROLLED STUDY; DISEASE COURSE; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATION RATE; PREDICTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; X LINKED AGAMMAGLOBULINEMIA;

EID: 18544400057     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.101.2.276     Document Type: Article

References (38)

1. Bruton OC. Agammaglobulinemia. Pediatrics. 1952;9:722-727
2. Vetrie D Vorechovsky I, Sideras P, et al. The gene involved m X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature. 1993;361:226-233
3. Tsukada S, Saffran DC, Rawlings DJ, et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell. 1993;72:279-290
4. Mano H, Yamashita Y, Miyazato A, et al. TEC protein kinase is an effector molecule of Lyn protein tyrosine kinase. FASEB J. 1996;10: 637-642
5. Siliciano JD, Morrow TA, Desiderio SV. ITK a T-ceU specific tyrosine kinase gene inducible by interleukin 2. Proc Natl Acad Sci USA. 1992;89: 11194-11198
6. Heyeck SD, Berg LJ. Developmental regulation of a murine T-cell-specific tyrosine kinase gene, TSK. Proc Natl Acad Sci USA. 1993;90: 669-673
7. Tamagnone L, Lahtinen I, Mustonen T, et al. BMX, a novel nonreceptor tyrosine kinase gene of the BTK/ITK/TEC/TXK family located in chromosome Xp22.2. Oncogene. 1994;9:3683-3688
8. Saraste M, Hyvönen M. Pleckstrin homology domains: a fact file. Curr Opin Struct Biol. 1995;5:403-408
9. Tsukada S, Sinon MI, Witte ON, et al. Binding of subunits of heterotrimeric G proteins to the PH domain of Bruton tyrosine kinase. Proc Natl Acad Sci USA. 1994;91:11256-11260
10. Yao L, Kawakami Y, Kawakami T. The pleckstrin homology domain of Bruton tyrosine kinase interacts with protein kinase C. Proc Natl Acad Sci USA. 1994;91:9175-9179
11. Salim K, Bottomley MJ, Querfurth E, et al. Distinct specificity in the recognition of phosphoinositides by the pleckstrin homology domains of dynamin and Bruton's tyrosine kinase. EMBO J. 1996;15:6241-6250
12. Cheng G, Ye Z-S, Baltimore D. Binding of Bruton's tyrosine kinase to Fyn, Lyn, or Hck through a Src homology 3 domain-mediated interaction. Proc Natl Acad Sci USA. 1994;91:8152-8155
13. Pawson T. SH2 and SH3 domains in signal transduction. Adv Cancer Res. 1994;64:87-110
14. Vihinen M, Cooper MD, de Saint-Basile G, et al. BTKbase: a database of XLA-causing mutations. Immunol Today. 1995;16:460-465
15. Vihinen M, Belohradsky BH, Haire NH, et al. BTKbase, mutation data base for X-linked agamma-globulinemia. Nucleic Acids Res. 1997;25: 166-171
16. Report of a WHO Scientific Group. Primary immunodeficiency diseases. Clin Exp Immunol 1995;99(suppl 1):1-24
17. Meindl A, Dry K, Herrmann K, et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa. Nature Genet. 1996;13:35-42
18. Vorechovsly I, Vihinen M, de Saint-Basile G, et al. DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia. Hum Mol Genet. 1995;4:51-58
19. Hubbard SR, Wei L, Ellis L, Hendrickson WA. Crystal structure of the tyrosine kinase domain of the human insulin receptor. Nature. 1994;372: 746-754
20. Bernstein FC, Koetzle TF, Williams GJB, et al. The Protein Data Bank a computer based archival file for macromolecular structures. J Mol Biol. 1997;112:535-542
21. Mohammadi M, Schlessinger J, Hubbard SR. Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism. Cell. 1996;86:577-587
22. Devereux J, Haeberli P, Smithies O. A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res. 1984;12:387-395
23. Vihinen M, Euranto A, Luostarinen P, et al. MULTICOMP: a program package for multiple sequence comparison. Comput Appl Biosci. 1992;8: 35-38
24. Hanks SK. Eukaryotic protein kinases. Curr Opin Struct Biol. 1991;1: 369-383
25. Boberg J, Salakoski T, Vihinen M. Selection of a representative set of structures from Brookhaven Protein Data Bank. Proteins Struct Funct Genet 1992;14:265-276
26. Boberg J, Salakoski T, Vihinen M. Representative selection of proteins based on nuclear families. Protein Eng. 1995;8:501-503
27. Brooks BR, Bruccoleri RE, Olafsen BD, et al. CHARMM: a program for macromolecular energy, minimization, and dynamic calculations. J Comp Chem. 1983;4:187-217
28. Vihinen M, Vetrie D, Maniar H, et al. Structural baas for X-linked chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. Proc Natl Acad Sci USA. 1994;91:12803-12807
29. Bradley LA, Sweatman AK, Lovering RC, et al. Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. Hum Mol Genet. 1996;3:79-83
30. Vihinen M, Iwata T, Kinnon C, et al. BTKbase: XLA-mutation registry. Immunol Today. 1996;17:502-506
31. Himmelmann A, Thevenin C, Harrison K, et al. Analysis of the Bruton's tyrosine kinase gene promoter reveals critical PU.1 and SP1 sites. Blood. 1996;3:1036-1044
32. Müller S, Sideras P, Smith CIE, et al. Cell specific expression of human Bruton's agammaglobulinemia tyrosine kinase gene (Btk) is regulated by Sp1- and Sp-1/PU.1-family members. Oncogene. 1996;13:1955-1964
33. Hashimoto S, Tsukada S, Matsushita M, et al. Identification of Bruton's tyrosine kinase (BTK) gene mutations and characterization of the deled proteins in 35 X-linked agammaglobulinemia families: a nationwide study of BTK deficiency in Japan. Blood. 1996;88:561-573
34. Vorechovsky I, Luo L, Hertz JH et al. Hum Mut. 1997;9:418-425
35. Ollila J, Lappalainen I, Vihinen M. Sequence specificity in CpG mutation hotspots. FEBS Lett. 1996;396:119-122
36. De Weers M, Mensink RGJ, Kraakman MEM, et al. Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice. Hum Mol Genet. 1994;3:161-163
37. Gaspar HB, Bradley LAD, Katz F, et al. Genomic organization of the BTK gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. Hum Mol Genet. 1994;3:1751-1756
38. Yel L, Minegishi Y, Coustan-Smith E, et al. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. N Engl J Med. 1996; 335:1486-1493