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Bruton tyrosine kinase gene mutations in Argentina

✍ Scribed by Silvia Danielian; Jazmin El-Hakeh; Guillermo Basílico; Matías Oleastro; Sergio Rosenzweig; Guillermina Feldman; Liliana Berozdnik; Miguel Galicchio; Ángela Gallardo; Vera Giraudi; Diana Liberatore; Eva Maria Rivas; Marta Zelazko

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
41 KB
Volume
21
Category
Article
ISSN
1059-7794

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✦ Synopsis

The block in differentiation from pro-B to pre-B cells results in a selective defect in the humoral immune response characteristic of human X-linked agammaglobulinemia (XLA). Mutations of Bruton tyrosine kinase (BTK) gene have been identified as the cause of XLA. Mutation detection is the most reliable method for making a definitive diagnosis, except when clinical and laboratory findings are distinctive and coupled with history of X-linked inheritance. To provide a definitive diagnosis to 40 families incorporated in the Argentinian Primary Immunodeficiencies Registry we analysed the BTK gene by SSCP analysis as screening method for XLA, followed by direct sequencing. The molecular defect was localized in 45 patients from 34 unrelated families. From the 34 independent mutations identified, 16 were previously undescribed, 31 were unique mutations, 22 were exonic single nucleotide changes (16 missense and 6 nonsense) and four intronic mutations. Because five families had clinical, immunological and inheritance data sufficient for a definitive diagnosis, our study allowed 37 patients from 29 families previously categorized probable/ possible XLA, have now definitive diagnosis leading to appropriate genetic counseling.

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