Table 2

Identified causative mutations in Tunisian hemophiliacs A
Family Number of Patient FVIII:C Severity Mutation Type Location Domain Inhibitors Reported
Family 1 1 <1% Severe c.90-91insA; p.12(31)LfsX11 Insertion Exon 1 A1 No Novel
Family 2 1 5% Moderate c.1615 G>C; p.G520(539)R Missense Exon 11 A2 No Novel
Family 3 1 2.5% Moderate ag/GGC>ac/GGC Splicing Intron14 B No Reported
Family 4 1 <1% Severe Exons1-13del Large deletion Exons 1-13 A1-A2 Yes Novel
Family 5 1 <1% Severe c.592 T>C; p.C179(198)R Missense Exon 4 A1 No Novel
Family 6 2 <1% Severe c.4844ins264pb Large insertion Exon 14 A1 No Novel
Family 7 1 12.5% Moderate c.2236-2237insT; p.727(746)SfsX7 Insertion Exon 14 B No Novel
Family 11 2 <1% Severe c.3637-3638insA; p.1191(1210)IfsX29 Insertion Exon 14 B No Reported
Family 13 1 <1% Severe c.4379-4380insA; p.1441(1460)KfsX2 Insertion Exon 14 B No Reported
Family 14 1 <1% Severe c.6873-6876delTC; p.2272(2291)TfsX Deletion Exon 25 C2 No Reported
Family 15 1 <1% Severe c.3637-3638delA; p.1191(1210)IfsX5 Deletion Exon 14 B No Reported
Family 16 1 <1% Severe c.5071-5075delATGAA; p.1671-3(1690–3)fsX Deletion Exon 14 B No Reported
Family 17 2 <1% Severe c.77 T>C; p.L7(26)P Missense Exon 1 A1 No Reported
Family 18 1 4.4% Moderate c.1492 G>A; p.G479(498)R Missense Exon 10 A2 No Reported
Family 19 1 6.5% Mild c.1696 C>T; p.L547(566)F Missense Exon 11 A2 No Reported
Family 20 1 1.6% Moderate c.3870-3871insA; p.1271(1290)KfsX29 Insertion Exon 14 B No Reported
Family 21 3 12-20% Mild c.2167 G>A; p. A704(723)T Missense Exon 14 B No Reported
Family 22 1 <1% Severe c.2409 T>C; p.N784(803)N Missense Exon 14 B No Novel

Elmahmoudi et al.

Elmahmoudi et al. Diagnostic Pathology 2012 7:93   doi:10.1186/1746-1596-7-93

Open Data