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 |