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

Eur J Haematol. 2003 Jul;71(1):39-43. doi: 10.1034/j.1600-0609.2003.00088.x.

Abstract

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.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • DNA Mutational Analysis
  • Exons
  • Factor XIII Deficiency / etiology
  • Factor XIII Deficiency / genetics
  • Factor XIIIa / genetics*
  • Female
  • Humans
  • Male
  • Mutation, Missense*
  • Protein Structure, Tertiary
  • Sequence Deletion*
  • Turkey

Substances

  • Factor XIIIa