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, sa.4, ss.362-364, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 48 Sayı: 4
  • Basım Tarihi: 2006
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.362-364
  • Anahtar Kelimeler: X-linked agammaglobulinemia, Bruton's tyrosine kinase, mutation, X-LINKED AGAMMAGLOBULINEMIA, BTK MUTATIONS, GENE, XLA, IDENTIFICATION
  • Ankara Üniversitesi Adresli: Evet

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.