title: Identification of an inframe deletion and a missense mutation in the factor XIIIA gene in two Turkish patients.
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.
authors.affiliation: Department of Molecular Biology and Biotechnology, Faculty of Science, Hacettepe University, Ankara, Turkey.
authors.forename: Esra
authors.initials: E
authors.lastname: Birben
authors.forename: Cihan
authors.initials: C
authors.lastname: Oner
authors.forename: Reyhan
authors.initials: R
authors.lastname: Oner
authors.forename: Cigdem
authors.initials: C
authors.lastname: Altay
authors.forename: Aytemiz
authors.initials: A
authors.lastname: Gürgey
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D005091:Exons; D005177:Factor XIII Deficiency / Q000209:etiology / Q000235:genetics; D026122:Factor XIIIa / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D017434:Protein Structure, Tertiary; D017384:Sequence Deletion; D014421:Turkey
chemical_list: D026122:Factor XIIIa