Table I.
Phenotype and genotype in FXI deficient patients and family members.
| Family number | Individual ID | Bleeding symptoms | Age, years | Sex | aPTT, s | FXI, U/dL | Bleeding score | Mutation type | Protein sequence | Nucleotide sequence | Genotype |
|---|---|---|---|---|---|---|---|---|---|---|---|
| I | 02** | AS | 26 | F | 33.9 | 78.4 | 0 | Missense | p.V522G | c.1619T>G | Heterozygote |
| II | 04**** | AS | 8 | F | 37.9 | 27 | 0 | Missense | p.G418V | c.1253G>T | Heterozygote |
| II | 06** | AS | 40 | F | uk | uk | 0 | No mutation | |||
| III | 08* | B, BMW, BTE, GIB, OB | 11 | F | 42.7 | 28.1 | 8 | Nonsense | p.W519* | c.1556G>A | Heterozygote |
| IV | 10* | E | 7 | M | 33 | 54 | 1 | Missense | p.T51P | c.151A>C | Heterozygote |
| IV | 12*** | AS | 40 | M | uk | uk | 0 | No Mutation | |||
| V | 14* | B, BMW | 3.5 | M | 118.2 | 5.1 | 2 | Missense | p.C581R | c.1741T>C | Homozygote |
| V | 16** | AS | 32 | F | 31.9 | 37.4 | 0 | Missense | p.C581R | c.1741T>C | Heterozygote |
| VI | 18** | AS | 45 | F | 30.4 | 59.1 | 0 | Nonsense | p.W519* | c.1556G>A | Heterozygote |
| VII | 20* | AS | 4 | M | 108 | 5.9 | - | Splice site | c.325+1G>A | Homozygote | |
| VII | 22*** | AS | 42 | M | 26.5 | 80.9 | - | Splice site | c.325+1G>A | Heterozygote | |
| VIII | 24* | E | 10 | F | 38.3 | 26.6 | 1 | Missense | p.T51P | c.151A>C | Heterozygote |
| VIII | 26*** | AS | 39 | M | 29.1 | 86.7 | - | No mutation | |||
| IX | 28** | AS | 28 | F | 32 | 75.5 | - | Missense | p.C416Y | c.1247G>A | Heterozygote |
| X | 30* | E | 6 | M | 36.3 | 61 | 0 | Nonsense | p.E135* | c.403G>T | Heterozygote |
| X | 32*** | AS | 60 | M | 27.3 | 67.9 | - | Nonsense | p.E135* | c.403G>T | Heterozygote |
*
Patient;
**
mother;
***
father;
****
sibling;
E: epistaxis; AS: asymptomatic; BTE: bleeding after tooth extraction; BO: bleeding after operation; B: bruising; BMW: bleeding from minor wounds; GIB: gastrointestinal bleeding; OB: oral bleeding; PPB: post-partum bleeding; CR: cerebral bleeding; H: haemarthrosis; * in p.W519*; p.E135*: nonsense mutation; uk: unknown; F: female; M: male; Men: menorrhagia.