Hypothesis

A six-year-old boy

Case1: Male, 6 years old

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0004406, HP:0000967

(Recurring nosebleed, petechia)

CaseHPOFreeText: Diffused peliosis

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: aIIb and b3 were absent in the platelets of this patient analyzed by flow cytometry.

PlateletAggregation: There was no concentration aggregation action in response to ADP and adrenaline, but patient platelets could aggregate when treated by ristocetin

CasePreviousTesting: Genomic DNA was isolated from cells, and exon 4 of ITGA2B was amplified. PCR products were resolved via agarose gels, purified for sequencing.

Gene: ITGA2B

Variant: NM_000419.3:c.480C>G and NM_000419.3:c.574+5G>C

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399805892 and CA913203563

gnomAD: MAF in the East Asian population 0.00005507 http://gnomad.broadinstitute.org/variant/17-42463013-G-C

CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Mutation:Intronic CAiD:CA399805892 CAiD:CA913203563 PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:Reported Zygosity:CompoundHeterozygous inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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