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BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

M Vihinen1, B H Belohradsky, R N Haire

  • 1Department of Biosciences, Division of Biochemistry, University of Helsinki, PO Box 56, Helsinki, FIN-00014, Finland. mauno.vihinen@helsinki.fi

Nucleic Acids Research
|January 1, 1997
PubMed
Summary

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X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by Bruton's agammaglobulinemia tyrosine kinase (BTK) gene mutations. BTKbase now catalogs 228 unique molecular events, aiding understanding of XLA pathogenesis.

Area of Science:

  • Immunology
  • Genetics
  • Biochemistry

Background:

  • X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder.
  • It results from mutations in the Bruton's agammaglobulinemia tyrosine kinase (BTK) gene.
  • Understanding BTK mutations is crucial for diagnosing and potentially treating XLA.

Purpose of the Study:

  • To update and expand the BTK mutation database (BTKbase).
  • To analyze the spectrum and distribution of BTK mutations causing XLA.
  • To provide insights into the structural and functional consequences of these mutations.

Main Methods:

  • Compilation and curation of mutation data from published literature and patient samples.
  • Analysis of mutation types, locations, and frequencies within the BTK gene.

Related Experiment Videos

  • Correlation of molecular events with patient phenotypes.

    • Main Results:

    • The updated BTKbase contains 368 entries from 318 families, detailing 228 unique molecular events.
    • Mutations occur across all five BTK domains, with missense mutations being most common.
    • Specific mutation 'hot spots' and regions with decreased mutation frequency were identified, including a novel R28C substitution.

    Conclusions:

    • BTKbase serves as a comprehensive resource for XLA-related genetic information.
    • Mutation patterns provide insights into BTK structure-function relationships and disease mechanisms.
    • Further research into genotype-phenotype correlations can guide therapeutic strategies for XLA.