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, cilt.48, ss.362-364, 2006 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 48 Konu: 4
  • Basım Tarihi: 2006
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.362-364

Özet

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.