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

Mesci L., Oezdag H., Turul T., Ersoy F., Tezcan I., Sanal O.

TURKISH JOURNAL OF PEDIATRICS, vol.48, no.4, pp.362-364, 2006 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 48 Issue: 4
  • Publication Date: 2006
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.362-364
  • Hacettepe University Affiliated: No

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.