Literature record
Von Willebrand disease type 2B with a novel mutation in the VWF gene.
PMID 33550910 | PMCID PMC7868623 | DOI 10.5144/0256-4947.2021.59 · Annals of Saudi medicine · 2021
We report a 38-year-old woman who presented with a subdural hematoma after minor facial trauma in a stressful situation. The laboratory data showed a subnormal platelet count (166×109/L), VWF:RCo activity was 45% and VWF:Ag was 53% with a VWF:RCo/VWF Ag ratio of 0.79. Hemostasis results and gene analysis revealed von Willebrand disease (VWD) type 2B with normal multimers and a novel mutation c.4136 G>T (R1379L), which appears to be a novel mutation of VWD type 2B that is mainly diagnosed with hypersensitivity to ristocetin and an hyperfixation of platelet Willebrand to a recombinant Gp1b. SIMILAR CASES PUBLISHED: None.
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VWF | “Von Willebrand disease type 2B with a novel mutation in the VWF gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | von Willebrand disease | “Von Willebrand disease type 2B with a novel mutation in the VWF gene.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | R1379L | “Hemostasis results and gene analysis revealed von Willebrand disease (VWD) type 2B with normal multimers and a novel mutation c.4136 G>T (R1379L), which appears to be a novel mutation of VWD type 2B that is mainly diagnosed with hypersensitivity to ristocetin and an hyperfixation of platelet Willebrand to a recombinant Gp1b.” | 0.82 | literature_variant_regex_v2 |