| Large deletions in the FVIII Gene (>50bp) | |||||||
| 8 May 12 | |||||||
| Nucleotide numbering where given should conform to the convention that "A" in initiation codon ATG = +1 | |||||||
| Recommended syntax for sequence variations may be seen at | |||||||
| http://www.genomic.unimelb.edu.au/mdi/mutnomen/ | |||||||
| Exon(s) deleted | Size of Deletion (kb) | FVIII:C U/dl | FVIII: U/dl | Severity | Inhibitors | References | Date added to HADB |
| promoter - exon 1 | ? | <1 | ? | Severe | ? | Western et al (unpublished) | Aug-05 |
| promoter - exon 5 | ? | <1 | ? | Severe | No | Jayandharan et al (2005) | Aug-07 |
| promoter - exon 6 | ? | ? | ? | Severe | ? | Nesbitt et al (unpublished) | Aug-05 |
| 1 | >1 | <1 | ? | Severe | No | Millar et al (1990) | Dec-90 |
| 1 | >2 | <1 | <1 | Severe | No | Youssoufian et al (1988d) | Dec-88 |
| 1 | ? | <1 | ? | Severe | No | Reiner & Thompson (1992) | Dec-92 |
| 1 | ? | ? | ? | Severe | No | Higuchi et al (1991b) | Dec-91 |
| 1 | ? | <1 | <1 | Severe | No | Ivaskevicius et al (2001) | Aug-01 |
| 1-5 | >35 | <1 | ? | Severe | No | Higuchi et al (1989) | Dec-89 |
| 1-6 | >55 | <1 | ? | Severe | Yes | Millar et al (1990) | Dec-90 |
| 1-7 | >55 | <1 | <1 | Severe | No | Ljung et al (unpublished) | Oct-99 |
| 1-8 | >55 | <1 | <1 | Severe | Yes | Ljung et al (unpublished) | Oct-99 |
| 1-14 | ? | <1 | ? | ? | ? | Citron et al (2002) | Jul-03 |
| 1-22 | ? | ? | ? | ? | ? | Lillicrap et al (1986) | Apr-97 |
| 1-26 | >210 | ? | ? | Severe | No | Casarino et al (1986) | Dec-86 |
| 1-26 | >210 | ? | ? | Severe | Yes | Casula et al (1990) | Dec-90 |
| Exon 1/Intron 1 | 13 | <1 | ? | Severe | No | Schwaab et al (1993) | Dec-93 |
| Exon 1/Intron 1 | 86bp incl IVS1 donor site | <1 | ? | Severe | No | Figueiredo et al (1994) | Dec-94 |
| Intron 1** | 7 | ? | ? | Severe | No | Levinson et al (1990) | Dec-90 |
| 2-3 | 9-12 | <1 | <1 | Severe | No | Youssoufian et al (1988d) Cutting et al (1988) Woods-Samuels et al (1991) | Dec-88 |
| 2-4 | ? | <1 | ? | Severe | Yes | Lin et al (1993) | Dec-93 |
| 2-4 | ? | <1 | ? | Severe | Yes | Gallardo et al (unpublished) | Nov-06 |
| 2-5 | ? | <1 | ? | Severe | No | Jayandharan et al (2005) | Aug-07 |
| 2-9 | ? | <1 | ? | Severe | Yes | Jayandharan et al (2005) | Aug-07 |
| 2-25 | >160 | <1 | ? | Severe | Yes | Tagariello et al (2000) | Jul-11 |
| 2-25 | >160 | <1 | ? | Severe | Yes | Salviato et al (2002) | Aug-03 |
| 3 | 1.7-2.0 | <1 | ? | Severe | No | Higuchi et al (1988;1989) | Dec-88 |
| 3 | ? | ? | ? | Severe | ? | Becker et al (1996) | Aug-96 |
| 3-4 | ? | <1 | ? | ? | ? | Citron et al (2002) | Jul-03 |
| 3-5 | 11.7 | <1 | ? | Severe | No | Millar et al (1990) | Dec-90 |
| 3-13 | 60 | <1 | <1 | Severe | Yes | Youssoufian et al (1988d) Cutting et al (1988) | Dec-88 |
| 4 | 0.2 A112_G182del | <1 | ? | Severe | No | Bogdanova et al (2005) | Jul-06 |
| 4-7 | 28 | <1 | 2 | Severe | Yes | Shibata et al (2000) | Aug-01 |
| 4-10 | ? | <1 | ? | Severe | Yes | Lin et al (1993) | Dec-93 |
| 4-10 | Alu-mediated crossover | <1 | ? | Severe | Yes | Rossetti et al (2004) | Jun-07 |
| 4-21 | ? | <3 | ? | Severe | Yes | Williams et al (unpublished) | Feb-01 |
| 4-25 | 133-145 | <1 | <1 | Severe | No | Youssoufian et al (1988d)Cutting et al (1988) | Dec-88 |
| 5 | 2 | ? | ? | Severe | No | Broecker-Vriends et al (1990) | Dec-90 |
| 5 | ? | <1 | ? | Severe | No | Gallardo et al (unpublished) | Nov-06 |
| 5 or 6 | 2 | ? | ? | Severe | ? | Broecker-Vriends et al (1988) | Dec-88 |
| 5-6 | ? | ? | ? | Severe | ? | Gitschier et al (1989) | Dec-89 |
| 5-6 | 2.5-10 | ? | ? | Severe | Yes | Levinson et al (1990) | Dec-90 |
| 5-6 | ? | <1 | ? | Severe | No | Naylor et al (1993a) | Dec-93 |
| 5-6 in frame | ? | 3 | ? | Moderate | ? | Theophilus et al (2001) | Aug-01 |
| 5-7 | ? | ? | ? | Severe | ? | Nesbitt et al (unpublished) | Aug-05 |
| 5-6, 10-13, inv7-9 | ? | ? | ? | Severe | ? | Kariya et al (1989) | Dec-89 |
| 5-13 | 57 | <1 | ? | Severe | Yes | Millar et al (1990) | Dec-90 |
| 5-14 | ?50 | <1 | ? | Severe | No | Bogdanova et al (2005) | Jul-06 |
| 6 | 10 | ? | ? | Severe | No | Levinson et al (1990) | Dec-90 |
| 6 | 7 | <1 | <1 | Severe | No | Youssoufian et al (1987b) | Dec-87 |
| 6 | 3-6 | ? | ? | Severe | No | Levinson et al (1990) | Dec-90 |
| 6 | ? | <1 | ? | Severe | Yes | Lin et al (1993) | Dec-93 |
| 6 | <1 | ? | Severe | No | Schwaab et al (1993) | Dec-93 | |
| 6 | 8-13 | <1 | ? | Severe | No | Schwaab et al (1993) | Dec-93 |
| 6 | ? | <1 | ? | Severe | No | Jayandharan et al (2005) | Aug-07 |
| 7 in-frame | ? | <1 | ? | ? | ? | Citron et al (2002) | Jul-03 |
| 7-9 | 15-20 | <1 | ? | Severe | Yes | Higuchi et al (1989) | Dec-89 |
| 7-9 | ? | ? | ? | Severe | ? | Becker et al (1996) | Aug-96 |
| 7-9 | ? | <1 | ? | Severe | Yes | Gallardo et al (unpublished) | Aug-03 |
| 7-10 | ? | ? | ? | Severe | ? | Nesbitt et al (unpublished) | Aug-05 |
| 7-14 | 40-56 | <1 | <1 | Severe | No | Youssoufian et al (1988d) | Dec-88 |
| 7-20 | c.80? | <1 | <1 | Severe | Yes | Arnold et al (unpublished) | Jul-06 |
| 7-22 | 110 | ? | ? | Severe | Yes | Casula et al (1990) | Dec-90 |
| 8-9 | ? | <1 | ? | Severe | No | Fernandez-Lopez et al (unpublished) | Jul-05 |
| 9-11 | ? | <1 | ? | Severe | Yes | Liu et al (2002) | Mar-02 |
| 10 | 4.8 | <1 | ? | Severe | No | Krepelova et al (1992a) | Dec-92 |
| 10-11 | ? | ? | ? | Severe | No | Rossetti et al (2006) | Jun-07 |
| 10-13 | ? | ? | ? | Severe | ? | Lambert et al (1997) | Apr-97 |
| 10-18 | 62.5 | ? | ? | Severe | Yes | De Brasi et al (2004) | Jul-07 |
| 11-22 | 60 | ? | ? | Severe | Yes | Antonarakis et al (1985) Cutting et al (1988) Woods-Samuels et al (1991) | Dec-05 |
| 11-25 | residues 494-2281 | <1 | ? | Severe | Yes | Sanchez-Vega et al (unpublished) | Jul-00 |
| 12-25 | ? | <1 | ? | Severe | Yes | Liu et al (2002) | Mar-02 |
| 13 | ? | <1 | ? | Severe | ? | Nesbitt et al (unpublished) | Aug-05 |
| Intron 13/Exon 14 | 6.1 | <1 | ? | Severe | No | Krepelova et al (1992a) | Dec-92 |
| Intron 13/Exon 14 | 6.1 | <1 | ? | Severe | Yes | Krepelova et al (1992a) | Dec-92 |
| Intron 13/Exon 14 | 4.6 | <1 | ? | Severe | Yes | Krepelova et al (1992a) | Dec-92 |
| 13-23 | ? | 1 | ? | Severe | ? | Lombardi et al (2004A) | Jun-07 |
| 14 | 12-16 | <1 | ? | Severe | Yes | Higuchi et al (1989) | Dec-89 |
| 14 | 6 | <1 | <0.1 | Severe | Yes | Mikami et al (1988b) | Dec-88 |
| 14 | 2.3-3.0 | <1 | ? | Severe | No | Higuchi et al (1989) | Dec-89 |
| 14 | 2.5 | <1 | <1 | Severe | No | Youssoufian et al (1987b) Woods-Samuels et al (1991) | Dec-87 |
| 14 | 2.5 | ? | ? | Severe | ? | Woods-Samuels et al (1991) | Dec-91 |
| 14 | 2.8 | 1 | ? | Severe | No | Timur et al (2001) | Oct-01 |
| 14 | >3 | <1 | ? | Severe | Yes | Gallardo et al (unpublished) | Aug-03 |
| 14 | >3 | <1 | ? | Severe | Yes | Gallardo et al (unpublished) | Nov-06 |
| 14 | c.78bp 1392del1418 | <1 | ? | Severe | No | Jayandharan et al (2005) | Aug-07 |
| 14 | c.78bp 1392del1418 | <1 | ? | Severe | No | Jayandharan et al (2005) | Aug-07 |
| 14/5' site | ? | ? | ? | Severe | ? | Becker et al (1996) | Aug-96 |
| 14-21 | 50 | <1 | ? | Severe | Yes | Millar et al (1990) | Dec-90 |
| 14-22 | >36 | ? | ? | Severe | Yes | Nafa et al (1990) | Dec-90 |
| 14-22 | ? | ? | ? | Severe | Yes | Lillicrap (unpublished) | Dec-90 |
| 15 | ? | ? | ? | Severe | ? | Antonarakis et al (unpublished) | Dec-90 |
| 15 | ? | <1 | ? | Severe | Yes | Fernandez-Lopez et al (unpublished) | Jul-05 |
| 15-18 | 13 | ? | ? | Severe | Yes | Camerino et al (1986) Bardoni et al (1988) | Dec-86 |
| 15-20 | 20.7 | <1 | ? | Severe | Yes (most) | Van de Water et al (1996, 1998) | Jan-99 |
| 15-21 | ? | ? | ? | Severe | ? | Higuchi et al (1991b) | Dec-91 |
| 15-21 | ? | ? | ? | Severe | ? | Becker et al (1996) | Aug-96 |
| 15-21 | ? | <1 | ? | Severe | Yes | Vidal et al (2001) | Aug-01 |
| 15-21 | ? | <1 | ? | ? | ? | Citron et al (2002) | Jul-03 |
| 15-22 | ~50 | <1 | ? | Severe | Yes | Reiner & Thompson (1992) | Dec-92 |
| 15-22 | >15 | <1 | <1 | Severe | No | Michaelides et al (unpublished) | Dec-94 |
| 15-22 | >19 | <1 | ? | Severe | Yes | Figueiredo et al (1994) | Dec-94 |
| 15-22 | ? | <1 | <1 | Severe | Yes | Ivaskevicius et al (2001) | Aug-01 |
| 15-22 | ? | <1 | ? | Severe | Yes | Ivaskevicius et al (2001) | Aug-01 |
| 16 | 0.21 | 1 | ? | Severe | No | Bidichandani et al (1995) | Dec-95 |
| 16 | 0.21 | <1 | <1 | Severe | No | Ljung et al (unpublished) | Jul-07 |
| 16-26 | >95 | <1 | ? | Severe | Yes | Figueiredo et al (1992) | Dec-92 |
| Intron 15/Exon 16 | 0.304 | <1 | ? | Severe | No | Schwaab et al (1993) | Dec-93 |
| 17 | ? | ? | ? | Severe | ? | Arruda et al (1995) | Jul-96 |
| 17-19 | ? | ? | ? | Severe | No | Wehnert et al (1989) | Dec-89 |
| 18,19+ | ? | ? | ? | Severe | ? | Grover et al (1987) | Dec-87 |
| 19 | 1.9 | <1 | ? | Severe | No | Naylor et al (1993a) | Dec-93 |
| 19 | caused by Alu insertion | <1 | ? | Severe | ? | Ganguly et al (2003) | Jun-07 |
| 19 | splice AIVS19+4G | ? | ? | Severe | No | Bicocchi et al (2004); Bicocchi et al (2005B) | Jul-07 |
| 19-21 | 4.7 | <1 | ? | Severe | Yes | Millar et al (1990) | Dec-90 |
| 19-21 | ? | <1 | <1 | Severe | No | Ivaskevicius et al (2001) | Aug-01 |
| 21-22 | ? | <1 | <1 | Severe | No | Fidalgo et al (unpublished) | Aug-04 |
| 22 | c. 0.15 (codons2073-2124) | <1 | ? | Severe | Yes | Sanchez-Vega et al (unpublished) | Jul-00 |
| 22 | 5.5 | 2-5 | ? | Moderate | No | Youssoufian et al (1987b) | Dec-87 |
| Intron 22+ | ? | ? | ? | Severe | No | Wehnert et al (1989) | Dec-89 |
| Intron 22+ | ? | ? | ? | Moderate | No | Wehnert et al (1989) | Dec-89 |
| 23-24 | ? | ? | ? | Moderate | No | Lavergne et al (1992) | Dec-92 |
| 23-25 | >16 | <1 | <1 | Severe | No | Youssoufian et al (1987b) | Dec-87 |
| 23-25 | 39 | <1 | ? | Severe | Yes | Gitschier et al (1985) | Dec-85 |
| 23-25 | ? | <2 | ? | Severe | Yes | Williams et al (1998) | Jul-98 |
| 23-26 | ? | ? | ? | Severe | Yes | Din et al (1986) | Dec-86 |
| 23-26 | ? | ? | ? | Severe | Yes | Lavergne et al (1992) | Dec-92 |
| 24 | 0.15 C2174fs | <1 | ? | Severe | No | Bogdanova et al (2005) | Jul-06 |
| 24 | 1328bp | <1? | ? | Severe | Yes | Nakaya et al (2004) | Jun-07 |
| 24-25 | >3.4 | <1 | <1 | Severe | No | Youssoufian et al (1987b) | Dec-87 |
| 24-25 | ? del AA2173-2332 | <1 | ? | ? | ? | Citron et al (2002) | Jul-03 |
| 25 | ? indel | <1 | ? | ? | ? | Citron et al (2002) | Jul-03 |
| 25+ | c.23 Alu recombination | <1 | ? | Severe | No | Vidal et al (2001; 2002) | Aug-01 |
| part 26 | ? | <1 | ? | Severe | No | Schwaab et al (1993) | Dec-93 |
| 26 | 22 | <1 | ? | Severe | No | Gitschier et al (1985) | Dec-85 |
| 26 | >18 | <1 | ? | Severe | No | Higuchi et al (1989) | Dec-89 |
| 26 | 14 | <1 | <1 | Severe | No | Youssoufian et al (1988d) | Dec-88 |
| 26 | 8.7 | ? | ? | Severe | ? | Bernardi et al (unpublished) | Dec-90 |
| 26 | >2 | ? | ? | Severe | No | Nafa et al (1990) | Dec-90 |
| 26 | >2 | ? | ? | Severe | No | Youssoufian et al (1987c) | Dec-87 |
| 26 | >2 | ? | ? | Severe | ? | Bernardi et al (1989) | Dec-89 |
| 26 | ? | ? | ? | Severe | ? | Antonarakis et al (unpublished) | Dec-90 |
| 26 | ? | ? | ? | Severe | No | Lavergne et al (1992) | Dec-92 |
| 26 | ? | ? | ? | Severe | No | Lavergne et al (1992) | Dec-92 |
| 26 | ? | ? | ? | Severe | No | Lavergne et al (1992) | Dec-92 |
| 26 | <10.5 | <1 | ? | Severe | No | Figueiredo et al (1994) | Dec-94 |
| 26 | ? | <1 | ? | Severe | No | Schwaab et al (1993) | Dec-93 |
| 26 | ? | <1 | ? | Severe | Yes | Liu et al (2002) | Mar-02 |
| 26 | ? | <1 | ? | Severe | ? | Ahmed et al (2005) | Aug-05 |
| 26 - 3' end | >2.2 | <1 | ? | Severe | ? | Yenchitsomanus et al (2003) | Aug-04 |
| + Precise extent unknown but includes at least region indicated. ** Not proven to be cause of disease phenotype although segregates with disease allele | |||||||