Case2: Male, 9 years old, Japanese

DiseaseAssertion: Macrothrombocytopenia

FamilyInfo: Information on mother is given (minimal other family information)

ParentalGenotype: Mother: ITGA2B (Phe993del heterozygous)

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Surface expression of αIIbβ3 in platelets of the patient and his mother was about 80% compared to control subjects with an increase of CD42b expression

PlateletAggregation: N/A

CasePreviousTesting: The entire coding sequence of exons and exon-intron boundaries of ITGA2B and ITGB3 and the whole coding regions of ITGA2B and ITGB3 cDNA obtained from platelets were sequenced as previously described. In the case of ITGA2B p.Phe993del, PCR products obtained from amplification of exon 30 of ITGA2B from the patient's DNA were subcloned to pCR2.1-TOPO and sequence analysis was performed

Gene: ITGA2B

Variant: NM_000419.3:c.3070_3072del (p.Phe1024del)

LegacyVariant: p.Phe993del legacy nomenclature

ClinVar: N/A

CAiD: CA8602460

gnomAD: N/A