Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Bruton agammaglobulinemia tyrosine kinase

The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Isolated growth hormone deficiency type 3
BTK
Agammaglobulinemia, X-linked
BTK

References:

1.

Duriez B et al. (1994) An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.

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2.

Sakamoto M et al. (2001) Maternal germinal mosaicism of X-linked agammaglobulinemia.

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3.

Wood PM et al. (2001) A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency.

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4.

van der Meer JW et al. (1986) Campylobacter jejuni bacteraemia as a cause of recurrent fever in a patient with hypogammaglobulinaemia.

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5.

Cohen DI et al. () Expression of an X-linked gene family (XLR) in late-stage B cells and its alteration by the xid mutation.

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6.

Kornfeld SJ et al. (1995) X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy.

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7.

Rawlings DJ et al. (1994) Bruton's tyrosine kinase is a key regulator in B-cell development.

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8.

Vetrie D et al. (1993) The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.

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9.

Vihinen M et al. (1999) Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.

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10.

Curtis SK et al. (2000) Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene.

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11.

Scher I et al. (1975) X-linked B-lymphocyte immune defect in CBA/N mice. II. Studies of the mechanisms underlying the immune defect.

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12.

Mao C et al. (2001) Crystal structure of Bruton's tyrosine kinase domain suggests a novel pathway for activation and provides insights into the molecular basis of X-linked agammaglobulinemia.

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13.

Jo EK et al. (2001) Characterization of mutations, including a novel regulatory defect in the first intron, in Bruton's tyrosine kinase gene from seven Korean X-linked agammaglobulinemia families.

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14.

Martin S et al. (2001) Development of type 1 diabetes despite severe hereditary B-lymphocyte deficiency.

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15.

Jo EK et al. (2003) Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients.

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16.

Ng YS et al. (2004) Bruton's tyrosine kinase is essential for human B cell tolerance.

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17.

Kawakami Y et al. (2006) Regulation of dendritic cell maturation and function by Bruton's tyrosine kinase via IL-10 and Stat3.

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18.

Wattanasirichaigoon D et al. (2006) Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations.

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19.

Hantschel O et al. (2007) The Btk tyrosine kinase is a major target of the Bcr-Abl inhibitor dasatinib.

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20.

Hasan M et al. (2008) Defective Toll-like receptor 9-mediated cytokine production in B cells from Bruton's tyrosine kinase-deficient mice.

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21.

van Zelm MC et al. (2008) Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.

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22.

Shinohara M et al. (2008) Tyrosine kinases Btk and Tec regulate osteoclast differentiation by linking RANK and ITAM signals.

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23.

Conley ME et al. (1988) Carrier detection in typical and atypical X-linked agammaglobulinemia.

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24.

Marshall-Clarke S et al. (1979) Deficient production of anti-red cell autoantibodies by mice with an X-linked B lymphocyte defect.

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25.

Buckley RH et al. (1973) Agammaglobulinemia, neutropenia, fever, and abdominal pain.

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26.

Berning AK et al. (1980) Mapping of the X-linked immune deficiency mutation (xid) of CBA/N mice.

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27.

Oeltjen JC et al. (1995) Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci.

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28.

Hagemann TL et al. (1995) Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia.

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29.

None (1993) Human genetics. Becoming B cells.

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30.

Vihinen M et al. (1994) Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.

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31.

Conley ME et al. (1994) Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.

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32.

Zhu Q et al. (1994) Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.

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33.

Hagemann TL et al. (1994) Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.

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34.

Rohrer J et al. (1994) The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia.

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35.

Cheng G et al. (1994) Binding of Bruton's tyrosine kinase to Fyn, Lyn, or Hck through a Src homology 3 domain-mediated interaction.

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36.

Ohta Y et al. (1994) Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia.

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37.

Vorechovsky I et al. (1993) Molecular diagnosis of X-linked agammaglobulinaemia.

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38.

Vorechovsky I et al. (1993) Absence of xid mutation in X-linked agammaglobulinaemia.

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39.

de Weers M et al. (1994) 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.

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40.

Bradley LA et al. (1994) Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.

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41.

Saffran DC et al. (1994) Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.

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42.

None (1994) Assessing inheritance of agammaglobulinemia.

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43.

Thomas JD et al. (1993) Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes.

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44.

Rawlings DJ et al. (1993) Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice.

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45.

Tsukada S et al. (1993) Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia.

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46.

Parolini O et al. (1993) Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22.

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47.

Vihinen M et al. (1996) BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

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48.

Bykowsky MJ et al. (1996) Discordant phenotype in siblings with X-linked agammaglobulinemia.

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49.

Uckun FM et al. (1996) BTK as a mediator of radiation-induced apoptosis in DT-40 lymphoma B cells.

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50.

Jones A et al. (1996) X linked agammaglobulinaemia with a 'leaky' phenotype.

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51.

Kobayashi S et al. (1996) Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.

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52.

Yel L et al. (1996) Mutations in the mu heavy-chain gene in patients with agammaglobulinemia.

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53.

Drabek D et al. (1997) Correction of the X-linked immunodeficiency phenotype by transgenic expression of human Bruton tyrosine kinase under the control of the class II major histocompatibility complex Ea locus control region.

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54.

Vorechovský I et al. (1997) Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.

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55.

Minegishi Y et al. (1998) Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia.

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56.

Conley ME et al. (1998) Mutations in btk in patients with presumed X-linked agammaglobulinemia.

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57.

NCBI article

NCBI 695 [^]
58.

OMIM.ORG article

Omim 300300 [^]
59.

Orphanet article

Orphanet ID 119094 [^]
60.

Wikipedia article

Wikipedia EN (Bruton's_tyrosine_kinase) [^]
Update: April 29, 2019