Identify mutations in BTK gene of patients with X-linked agammaglobulinemia (XLA)

Abstract

The cytoplasmic tyrosine kinase (BTK) protein is encoded by the BTK gene. Mutations in the BTK gene are responsible for the primary immunodeficiency X-linked agammaglobulinemia (XLA). Objectives: to detect mutations in BTK gene in patients with XLA. Subjects and Methods: three patients were diagnosed with XLA. Sequencing techniques were used to detect mutations in the BTK gene. Results: all the three patients had mutations in the BTK gene; one had a loss mutation of exon 2 to 5; two patients had an amino acid substitution mutation on exon 10, and the mutants respectively were c.862C>T (p.Arg288Trp) and c.843G>A (p.Trp281Stop). Conclusion: sequencing technique is the accurate method for screening all mutations in the BTK gene. Sequencing technique will support for the diagnosis of XLA, for clinicians to provide genetic counselling and prenatal diagnosis in the future.