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Molecular analysis of multiple genetic variants in Spanish FXII-deficient families

From the Unitat d’Hemostàsia i Trombosi. Hospital de la Santa Creu i Sant Pau, Barcelona, Spain

Correspondence: José Manuel Soria, Unitat d’Hemostàsia i Trombosi, Hospital de la Santa Creu i Sant Pau, Sant Antoni M^ª Claret 167, Barcelona 08025, Spain. E-mail: jsoria{at}santpau.es

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.

Key words: F12 gene, SNPs, FXII deficiency, C46T.