Case#: 26 year old female

Disease: Glazmann's Thrombasthenia Like Syndrome

CasePresentingHPOs: HP:0000978, HP:0001873

Bruising susceptibility, Thrombocytopenia,

CaseNotHPOs: HP:0004846

FamilyInfo: Three sisters all with thrombocytopenia and easy bruising/nose bleeding during infancy. Mother and grandmother had identical phenotype. Disease segregation with thrombocytopenia and decreased GPIIb/IIIa in the affected patients was confirmed. Pedigree figure 1.

PlateletAgreggation: Famiy member studied: Decreased PLT aggregation and diminished ATP release with the agonists ADP, collagen, and AA, Ristocetin not assessed in individual per supplementary table.

GenotypingMethod: genetic analysis of ITGA2B and ITGB3 genes was performed by next-generation sequencing (NGS). Sanger sequencing used to confirm variants.

ClinVar: 50233

CAID: CA10575573

Variant: NM_000419.5:c.3076C>T

GnomAD: Not Found

ExpressionEvidence: Level of expression on PLT surface determined by FCM: CD41a (GPIIb/IIIa) 45%, CD61 (GPIIIa) 56%, and CD42b (GPIb) 155%. Healthy control value range: CD41a (GPIIb/IIIa) (85-115%); CD61 (GPIIIa) (80-120%); CD42b (GPIb) (70-130%).