A Standard Nomenclature for Factor VIII and Factor IX Gene Mutations and Associated Amino Acid Alterations

Abstract

The exponential increase in reported mutations within the factor VIII and IX genes in patients with haemophilia A and B has resulted in the use of several different systems for reporting such mutations. The Factor VIII/IX Subcommittee believe that a standardised reporting system will be beneficial to all interested in the field of haemophilia genetics. This article contains proposals for a mutation nomenclature based on general working practices and standardised to the present state of our knowledge of the sequence and structure of the factor VIII and IX genes.

• References

• 1 Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K. Nucleotide sequence pf the gene for human factor IX (antihaemophilic factor B). Biochemistry 1985; 24: 3736-3750
• 2 Giannelli F, Green PM, High KA, SJommer S, Poon MC, Ludwig M, Schwaab R, Reitsma PH, Goossens M, Yoshioka A, Brownlee GG. Haemophilia B database pf point mutations and shprt additions and deletions -fourth edition. Nucl Acids Res 1993; 21: 3075-3087
• 3 Anson DS, Choo KH, Rees DJG, Giannelli F, Gould K, Huddleston JA, Brownlee GG. Gene structure of human antihaemophilic factor IX. EMBO J 1984; 3: 1053-1064
• 4 Wood WI, Capon DJ, Simonsen CC, Eatpn DL, Gitschier J, feyt R, Seeburg PH, Smith Rf, Hollipgshead P, Wion RL, Delwart E, Tuddenham EGD, Vehar GA, Lawn RM. Expression of actjvp human faptpr YJH frpm rppotn-binant DNA clones. Nature 1984; 312: 330-337
• 5 Vehar GA, Keyt B, Eaton D, Rodriguez H, O’Brien DP, Rotblat F, Oppermann H, Keck R, Wood WI, Harkins RN, Tuddenham EGD, Lawn RM, Capon DJ. Structure of human factor VIII. Nature 1984; 312: 337-342
• 6 Gitschier J, Wood WI, Goralla TM, Wion KL, Chen EY, Eaton OH, Vehar GA, Capon OJ, Lawn RM. Characteristics of the human Factor VIII gene. Nature 1984; 312: 326-330
• 7 Gitschier J, Wood WI. Sequence of the exon-containing regions of the human factor VIII gene. Human Molecular Genetics 1992; 1: 199-200
• 8 Lakich D, Kazazian HH, Antonorakis SE, Gitschier J. Inversions disrupting the factor VIII gene as a common cause of severe haemophilia A. Nature Genetics 1993; 5: 236-241
• 9 Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Human Molecular Genetics 1993; 2: 1773-1778