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Identification of Bruton's tyrosine kinase (Btk) gene mutations and
characterization of the derived proteins in 35 X-linked agammaglobulinemia
families: a nationwide study of Btk deficiency in Japan
S Hashimoto, S Tsukada, M Matsushita, T Miyawaki, Y Niida, A Yachie, S Kobayashi, T Iwata, H Hayakawa, H Matsuoka, I Tsuge, T Yamadori, T Kunikata, S Arai, K Yoshizaki, N Taniguchi and T Kishimoto
Department of Medicine III, Osaka University Medical School, Japan.
Deficiencies of Bruton's tyrosine kinase (Btk) have been implicated in the
pathogenesis of human X-linked agammaglobulinemia (XLA). The distinctive
phenotype observed in B-cell deficiency indicates the crucial role of Btk
in B-cell development. This report describes a nationwide study of Btk
deficiency in Japan, covering 51 XLA patients (35 independent families).
Along with the identification of mutations, the resulting protein products
were characterized by an in vitro kinase assay and a Western blot analysis.
Thirty-one of the families were found to have mutations in the coding
region of Btk. Although mutations were not found in the cDNA of 4 families,
the Btk transcripts of these patients were greatly reduced. The
identification of several novel missense mutations, in combination with the
result of other studies, clarified the presence of two (missense) mutation
hot spots, one in the SH1 and the other in the PH domain. The absence of
kinase activity seen in 32 of the families underscored the importance of
Btk protein analysis as a diagnostic indicator of XLA. The protein analysis
also clarified the different effects of missense mutations on kinase
activity and protein stability.
Volume 88,
Issue 2,
pp. 561-573,
07/15/1996
Copyright © 1996 by The American Society of Hematology
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