Identification of an inframe deletion and a missense mutation in the factor XIIIA gene in two Turkish patients


Birben E. , ÖNER C., ÖNER R., ALTAY Ç., Gurgey A.

EUROPEAN JOURNAL OF HAEMATOLOGY, cilt.71, sa.1, ss.39-43, 2003 (SCI İndekslerine Giren Dergi) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 71 Konu: 1
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1034/j.1600-0609.2003.00088.x
  • Dergi Adı: EUROPEAN JOURNAL OF HAEMATOLOGY
  • Sayfa Sayıları: ss.39-43

Özet

We report two novel mutations in factor XIIIA (FXIIIA) gene that caused congenital factor XIII deficiency in two unrelated patients. The first alteration, a missense mutation Leu235Arg in exon 6 of FXIIIA gene, is located in the putative calcium-binding part of the core domain of the enzyme. Replacement of non-polar hydrophobic leucine residue with positively charged arginine residue is likely to effect protein folding thus destabilizing the molecule. The second mutation is a 3-bp deletion in exon 14 of FXIIIA gene. This deletion is located in beta barrel 2 domain of the protein and results in translation of an aberrant FXIIIA molecule that lacks lysine residue either at positions 677 or 678. As this inframe deletion is located in a direct repetetive sequence of AAGAAG, that codes for two lysine residues, the exact location of deletion could not be detected.