Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies
Rath, M.; Najm, J.; Sirb, H.; Kentouche, K.; Dufke, A.; Pauli, S.; Hackmann, K.; Liehr, T.; Hübner, C.-A.; Felbor, U. · Zeitschrift für Orthopädie und Unfallchirurgie · 2015 · Heft S 01 · S. S36-S42
Bibliografische Angaben
Zusammenfassung
SummaryCongenital factor VII (FVII) and factor X (FX) deficiencies belong to the group of rare bleeding disorders which may occur in separate or combined forms since both the F7 and F10 genes are located in close proximity on the distal long arm of chromosome 13 (13q34). We here present data of 192 consecutive index cases with FVII and/or FX deficiency. 10 novel and 53 recurrent sequence alterations were identified in the F7 gene and 5 novel as well as 11 recurrent in the F10 gene including one homozygous 4.35 kb deletion within F7 (c.64+430_131–6delins - TCGTAA) and three large heterozygous deletions involving…
