Case6: GT-6, gender, age, ethnicity not specified
DiseaseAssertion: Glanzmann thrombasthenia type II
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: Article mentions patients presented with variable bleeding diathesis and Table 1 shows the several phenotypes that were seen among the cohort of 13 patients in this study (this article does not state a specific bleeding phenotype for each proband) "Most of the patients had gross blood loss due to epistaxis (54%), cutaneous bleeding (58%) and menorrhagia (100% of women), while other common symptoms (oral cavity, gastrointestinal, following dental extraction or mild injuries, postpartum, or hematomas) were in general milder."
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: Flow cytometry showed αIIbβ3 expression to be <5%
PlateletAggregation: Article mentions the disorder was indentified by platelet testing consisting in severely impaired aggregation in response to all physiological agonists and also TMA (See Table 4). Ristocetin-induced platelet aggregation was normal or reduced to some extent.
CasePreviousTesting: To detect mutations in ITGA2B or ITGB3, total RNA from peripheral blood was used for cDNA synthesis for RT-PCR. Using specific oligonucleotides and conditions, they amplified and sequenced ITGA2B and ITGB3 by Sanger sequencing, and every mutation found in cDNA was confirmed on DNA samples
Gene: ITGA2B
Variant: NM_000419.3:c.2944G>A (p.Val982Met) and NM_000419.3:c.2965G>A (p.Ala989Thr) and NM_000419.3:c.1612G>T (p.Glu538Ter)
LegacyVariant: (p.Val951Met) and (p.Ala958Thr)
and (p.Glu507Ter)
ClinVar: 381747 and 417951
CAiD: CA16608466 (p.Val951Met) and CA8602498 (p.Ala958Thr) and CA399802424 (p.Glu538Ter)
gnomAD: MAF in European (non-Finnish population) 0.00006486 http://gnomad.broadinstitute.org/variant/17-42451838-C-T and MAF in other population is 0.001939
http://gnomad.broadinstitute.org/variant/17-42451817-C-T
PreviouslyPublished: PMID: 15099289(p.Val951Met) and (p.Ala958Thr)