A rare case of Glanzmann's thrombasthenia and factor VII deficiency due to a combination of pathogenic and non-pathogenic gene variants
PMID: 31777146
Disease: Glazmann's Thrombasthenia type 1 and factor 7 deficiency
Case: 13 year old male, from non-consanguineous
CasePresentingHPOs: HP:0011889, HP:0000978, HP:0031364,
GenotypingMethod: Direct sequencing of all coding, splice site and promoter regions of F7 and ITGA2B and ITGB3 genes. Heterozygous for two ITGB3 variants predicted to be deleterious in silico.
First heterozygous mutation:
ClinVar: Not found
CAID: CA400022111
Variant: NM_000212.3:c.473A>T
GnomAD: Not found
Second heterozygous mutation:
ClinVar: Not found
CAID: CA400033092
Variant: NM_000212.3:c.2027A>C
GnomAD: Not found
PlateletAggregation: Platelet aggregation studies showed absent aggregation with adenosine diphosphate (ADP), collagen and was reduced with ristocetin
ExpressionEvidence: flow cytometry studies for platelet receptors showed absence of αIIbβ3 integrin and normal levels of GPIb and GPIX receptors