The propositus in our report is a now‐elderly woman who was first diagnosed with GT as a young girl (case 9) in the initial landmark French report on this inherited disease.
Case1: Female, elderly (age not specified)
DiseaseAssertion: Glanzmann Thrombasthenia
FamilyInfo: Neither parent of the proband had a history of bleeding and there was no consanguinity, but her brother who is 3 years younger was quickly shown to also have both Glanzmann thrombasthenia and Macrothrombocytopenia. 3 children of Case1 are shown in Figure 1A pedigree.
ParentalGenotype: N/A
CasePresentingHPOs: HP:0000978, HP:0000979, HP:0003010, HP:000042, HP:0000225, HP:0011877
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: Flow cytometry confirmed that her platelets expressed <1% αIIbβ3 with GPIb normally present.
CasePreviousTesting: DNA analysis for mutations in ITGA2B and ITGB3 was performed, sequences with potential mutations were highlighted by high resolution melting curve analysis. As a part of an initial testing of this patient's gene panel (not specified which genes), DNA from this patient was submitted to ThromboGenetics in Cambridge UK. While confirming the two ITGB3 mutations described, an additional finding was a heterozygous mutation in TUBB1.
Gene: ITGB3
Variant: NM_000212.2:c.565C>T and NM_000212.2:c.629G>C
LegacyVariant: N/A
ClinVar: N/A
CAiD: CA291224669 and CA400023389, respectively as written in variant section.
gnomAD: Maximum allele frequency for the variant NM_000212.2:c.565C>T: 0.00002638 https://gnomad.broadinstitute.org/variant/17-45362012-C-T