title: Molecular analysis of multiple genetic variants in Spanish FXII-deficient families.
abstract: We studied 3 Spanish patients with <1% FXII levels. DNA sequencing of the whole F12 gene identified 15 genetic variants. Molecular analyses of F12 mRNA demonstrated that the deficiency was caused by 5281delG in exon 9 of Patient 1 (in the homozygous state) and the 6306delG in exon 12 and another deletion of 23 bp in intron 8 of Patient 2 (both in the heterozygous state). Finally, a G-8C transversion was found in the homozygous state in Patient 3. Based on previous data, including a mouse model, the G-8C might be responsible for the FXII deficiency. None of these variants were present in 40 controls.
authors.affiliation: Unitat d'Hemostàsia i Trombosi, Hospital de la Santa Creu i Sant Pau, Sant Antoni M Claret 167, Barcelona 08025, Spain.
authors.forename: Carolina
authors.initials: C
authors.lastname: Mordillo
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Martinez-Marchán
authors.forename: Jordi
authors.initials: J
authors.lastname: Fontcuberta
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Soria
mesh_terms: D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005174:Factor XII / Q000235:genetics; D005175:Factor XII Deficiency / Q000235:genetics*; D005192:Family Health; D014644:Genetic Variation; D009154:Mutation; D012333:RNA, Messenger / Q000235:genetics; D013030:Spain
chemical_list: D012333:RNA, Messenger; D005174:Factor XII