Novel deletion mutation in Bruton’s tyrosine kinase results in X-linked agammaglobulinemia: A case report

Figure 1 No Bruton’s tyrosine kinase variants were detected in the proband’s parents’ genomes. Polymerase chain reaction direct sequencing revealed a compound heterozygous Bruton’s tyrosine kinase sequence variant (c.902_c.904delAAG/p.E301del) in the proband. The parents of the proband both had normal Bruton’s tyrosine kinase genes.