Mini-gene assays confirm the splicing effect of deep intronic variants in the factor VIII gene

• References

• 1 Gitschier J, Wood WI, Goralka TM. et al. Characterization of the human factor VIII gene. Nature 1984; 312: 326-330.
• 2 White 2nd GC, Rosendaal F, Aledort LM. et al. Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 2001; 85: 560.
• 3 Oldenburg J, El-Maarri O. New insight into the molecular basis of hemophilia A. Int J Hematol 2006; 83: 96-102.
• 4 Zimmermann MA, Meier D, Oldenburg J. et al. Identification and characterization of mutations in the promoter region of the factor VIII gene. J Thromb Haemost 2012; 10: 314-317.
• 5 Bagnall RD, Waseem NH, Green PM. et al. Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients. Br J Haematol 1999; 107: 766-771.
• 6 Castaman G, Giacomelli SH, Mancuso ME. et al. Deep intronic variations may cause mild hemophilia A. J Thromb Haemost 2011; 09: 1541-1548.
• 7 Inaba H, Koyama T, Shinozawa K. et al. Identification and characterization of an adenine to guanine transition within intron 10 of the factor VIII gene as a causative mutation in a patient with mild haemophilia A. Haemophilia 2013; 19: 100-105.
• 8 Pezeshkpoor B, Zimmer N, Marquardt N. et al. Deep intronic ’mutations’ cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA. J Thromb Haemost 2013; 11: 1679-1687.
• 9 Bach JE, Wolf B, Oldenburg J. et al. Identification of deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene. Thromb Haemost. 2015 114: Epub ahead of print.
• 10 Yeo G, Burge CB. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 2004; 11: 377-394.
• 11 Reese MG, Eeckman FH, Kulp D. et al. Improved splice site detection in Genie. J Comput Biol 1997; 04: 311-323.
• 12 Pertea M, Lin X, Salzberg SL. GeneSplicer: a new computational method for splice site prediction. Nucleic Acids Res 2001; 29: 1185-1190.
• 13 Desmet FO, Hamroun D, Lalande M. et al. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009; 37: e67.