Phenotypic expression of FV deficiency
| Patient4-150 . | Phenotype . | Mutation . | Exon . | Mutation type . | Genotype . | Gender . | Age at diagnosis . | FV activity . | FV antigen . | Reference . |
|---|---|---|---|---|---|---|---|---|---|---|
| I | Asymptomatic | C3571T | 13 | Nonsense | Homozygous | Male | 7 y | < 1% | 0.2% | 4-151 |
| II | Asymptomatic | C2491T | 13 | Nonsense | Homozygous | Female | 2 y | < 1% | ND | This study |
| III | Very mild | −4 bp nts 4014/7 | 13 | Frameshift | Homozygous | Female | 3 y | < 1.6% | < 0.3% | 20 |
| IV | Mild | G6395A | 23 | Missense | Homozygous | Male | NR | NR | < 5% | 29 |
| V | Mild | G6395A | 23 | Missense | Homozygous | Female | NR | NR | < 5% | 29 |
| VI | Mild | C3571T | 13 | Nonsense | Homozygous | Female | 10 y | < 1% | 0.2% | 4-151 |
| VII | Mild | C2491T‡ | 13 | Nonsense | Homozygous | Male | 10 y | < 3% | NR | 31 |
| VIII | Moderate | −1 bp nts 4291/4 | 13 | Frameshift | Homozygous | Male | 1 yr | < 1% | < 3.1% | This study |
| IX | Moderate | −8 bp exon 7 & A5279G | 7 & 15 | Frameshift & missense | Compound heterozygous | Female | 1 y | < 1% | < 3.1% | This study |
| X | Severe | −2 bp nts 2833/4 | 13 | Frameshift | Homozygous | Male | 2 y | < 1% | < 0.2% | 30 |
| XI | Severe | −1 bp nts 2857/9 | 13 | Frameshift | Homozygous | Female | Birth | NR | 0.02 IU/mL | 26 |
| XII | Severe | −1 bp nts 2857/9 | 13 | Frameshift | Homozygous | Female | Birth | NR | 0.02 IU/mL | 26 |
| Patient4-150 . | Phenotype . | Mutation . | Exon . | Mutation type . | Genotype . | Gender . | Age at diagnosis . | FV activity . | FV antigen . | Reference . |
|---|---|---|---|---|---|---|---|---|---|---|
| I | Asymptomatic | C3571T | 13 | Nonsense | Homozygous | Male | 7 y | < 1% | 0.2% | 4-151 |
| II | Asymptomatic | C2491T | 13 | Nonsense | Homozygous | Female | 2 y | < 1% | ND | This study |
| III | Very mild | −4 bp nts 4014/7 | 13 | Frameshift | Homozygous | Female | 3 y | < 1.6% | < 0.3% | 20 |
| IV | Mild | G6395A | 23 | Missense | Homozygous | Male | NR | NR | < 5% | 29 |
| V | Mild | G6395A | 23 | Missense | Homozygous | Female | NR | NR | < 5% | 29 |
| VI | Mild | C3571T | 13 | Nonsense | Homozygous | Female | 10 y | < 1% | 0.2% | 4-151 |
| VII | Mild | C2491T‡ | 13 | Nonsense | Homozygous | Male | 10 y | < 3% | NR | 31 |
| VIII | Moderate | −1 bp nts 4291/4 | 13 | Frameshift | Homozygous | Male | 1 yr | < 1% | < 3.1% | This study |
| IX | Moderate | −8 bp exon 7 & A5279G | 7 & 15 | Frameshift & missense | Compound heterozygous | Female | 1 y | < 1% | < 3.1% | This study |
| X | Severe | −2 bp nts 2833/4 | 13 | Frameshift | Homozygous | Male | 2 y | < 1% | < 0.2% | 30 |
| XI | Severe | −1 bp nts 2857/9 | 13 | Frameshift | Homozygous | Female | Birth | NR | 0.02 IU/mL | 26 |
| XII | Severe | −1 bp nts 2857/9 | 13 | Frameshift | Homozygous | Female | Birth | NR | 0.02 IU/mL | 26 |
Patient III: posttraumatic oral cavity bleeding, easy bruising; patients IV and V: no further information; patient VI: oral cavity bleeding, posttraumatic thigh hematoma, menorrhagia; patient VII: prolonged bleeding after injuries; patient VIII: oral cavity bleeding, epistaxis, hematomas; patient IX: oral cavity bleeding, epistaxis, hematomas, spontaneous muscle bleedings; patient X: gastrointestinal bleeding, epistaxis, knee and ankle hemarthrosis, hematuria, iliopsoas hematoma; patient XI: hydrocephalus, menorrhagia, intra-abdominal hemorrhage, follicular bleeding; patient XII: cephal-hematoma, (knee and ankle) hemarthrosis, subdural hematoma.
ND indicates not determined; NR, not reported.
Patients II, VIII, and IX correspond with this study's patients 3, 2, and 1, respectively.
van Wijk R and coworkers, manuscript submitted.
Brother of patient 3. His DNA was not available to confirm homozygosity for the C2491T mutation.