A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase

Turk J Pediatr. 2006 Oct-Dec;48(4):362-4.

Abstract

X-linked agammaglobulinemia (XLA) is a primary B cell immunodeficiency disorder, caused by a defect in the Bruton tyrosine kinase (BTK) gene. Here, we describe a novel four base pair mutation (838delGAGT) in intron 9 of the BTK gene leading to the skipping of exon 9 in a 2.5-year-old boy with this disorder.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Agammaglobulinaemia Tyrosine Kinase
  • Agammaglobulinemia / enzymology
  • Agammaglobulinemia / genetics*
  • Child, Preschool
  • Chromosomes, Human, X*
  • Exons / genetics
  • Genetic Linkage
  • Humans
  • Introns / genetics
  • Male
  • Mutation
  • Polymerase Chain Reaction
  • Protein-Tyrosine Kinases / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • src Homology Domains*

Substances

  • Protein-Tyrosine Kinases
  • Agammaglobulinaemia Tyrosine Kinase
  • BTK protein, human