Case3: Female, 8 years old, Japanese

DiseaseAssertion: Thrombocytopenia

FamilyInfo: Information on mother and grandfather available in Table 1(minimal information on other family members)

ParentalGenotype: Mother: ITGB3 (p.Asp621_Glu660del heterozygous) See Table 1

CasePresentingHPOs: HP:0000978 (Bruising)

CaseHPOFreeText: Subaponeurotic hematoma

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Surface expression levels of αIIbβ3 in platelets of patient were decreased to around 65% of normal subjects with increase of CD42b (See Table 1)

PlateletAggregation: N/A

CasePreviousTesting: Sequence analysis of DNA revealed the patient's mutation. RT-PCR was also performed. 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.

Gene: ITGB3

Variant: NM_000212.2:c.2134+1G>A (p.Asp621_Glu660del)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA400033344

gnomAD: N/A