Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia
| Autor: | Sergio M. Tani, Takeshi Futatani, Hirokazu Kanegane, Maria Marluce dos Santos Vilela, Jorge Pinto, Yue Wang, Toshio Miyawaki |
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| Rok vydání: | 2002 |
| Předmět: |
Adult
Male DNA Complementary X Chromosome Adolescent Genetic Linkage DNA Mutational Analysis X-linked agammaglobulinemia Recurrent bacterial infections Biology medicine.disease_cause Flow cytometry Hypogammaglobulinemia Exon Agammaglobulinemia immune system diseases hemic and lymphatic diseases Agammaglobulinaemia Tyrosine Kinase Genetics medicine Humans Bruton's tyrosine kinase Child Gene Polymorphism Single-Stranded Conformational Genetics (clinical) Family Health Mutation medicine.diagnostic_test DNA Protein-Tyrosine Kinases medicine.disease Molecular biology Immunology biology.protein Female Brazil |
| Zdroj: | Human Mutation. 20:235-236 |
| ISSN: | 1098-1004 1059-7794 |
| Popis: | Mutations in the Bruton tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in the peripheral blood. We evaluated 17 male Brazilian patients from 13 unrelated families who showed markedly reduced numbers of blood B cells and hypogammaglobulinemia. BTK gene analysis detected mutations in 10 of the 13 presumed XLA families. Seven mutations (Q196X, G613D, R28L, 251-273del, Q234X, H364P, and R13X) had been reported previously, whereas the remaining three mutations (M501T, IVS15+1G>C, and IVS14+1G>A) were novel. Mutation IVS15+1G>C occurred in a splice donor site and caused exons 15 and 16 to be skipped, and IVS14+1G>A might cause exon 14 to be skipped. Flow cytometry revealed deficient expression of BTK protein in 10 of the 13 families. This is the first report of the diagnosis of XLA by analysis of mutations of the BTK gene in Brazilian patients. © 2002 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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