Case KMP 15: Eastern Slovakia, Female, 82yo

DiseaseAssertion: hypertrophic cardiomyopathy

FamilyInfo: positive family history

CaseHPOFreeText: left ventricular outflow tract obstruction, left ventricular ejection fraction = 60%, New York Heart Association Classification = III, implantable cardioverter defibrillator

CasePreviousTesting: 12-lead ECG, echocardiography, partial testing (MYBPC3, MYH7, NEBL, SCN5A, TNNI3, TNNT2)

CaseGenotypingMethod: genomic DNA collected from peripheral blood leukocytes, Sanger sequencing

Variant: NM_000257.3(MYH7):c.2734A>G (p.Lys912Glu)

ClinVar: 520267, https://www.ncbi.nlm.nih.gov/clinvar/variation/520267/

gnomAD: n/a

Case#: KMP 15, female, 82 yrs, East Slovakia

DiseaseAssertion: HCM

FamilyInfo: yes

CasePresentingHPOs: n/a

CaseHPOFreeText: symptomatic, LVOTO yes; LVEF 60%; NYHA III.; ICD yes; ECG; echocardiography;

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

CasePreviousTesting: Additional Sanger sequencing of exons 12, 24, 25 of MYBPC3, exon 12 NEBL, exons 12, 20, 21 of SCN5A, exon 7 of TNNI3, and exon 9 of TNNT2 gene

CaseGenotypingMethod: Sanger sequencing;

Variant: NM_000257.4(MYH7):c.2734A>G (p.Lys912Glu)

ClinVar: 520267 https://www.ncbi.nlm.nih.gov/clinvar/variation/520267/

CAID: n/a

gnomAD: absent

Case1: Female, 43 years old, Caucasian

DiseaseAssertion: Thrombasthenia

FamilyInfo: Pedigree found in Fig. 2B

ParentalGenotype: See Pedigree Fig 2B

CasePresentingHPOs: HP:0000132 (Menorrhagia)

CaseHPOFreeText: Severe and frequent mucocutaneous hemorrhages, intra-peritoneal bleeding

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: 25% decrease of GPIbα and a reduced mean value of side scatter in the patient’s platelets.

PlateletAggregation: Platelet aggregation was markedly reduced in response to ADP, epinephrine, collagen, and arachidonic acid but agglutination induced by ristocetin was normal

CasePreviousTesting: Screening for mutations was carried out by direct sequencing of PCR-amplified overlapping fragments of reversed transcribed αIIb and β3 mRNA.

Gene: ITGB3

Variant: NM_000212.2:c.2231T>C (p.Leu744Pro)

LegacyVariant: (p.Leu718Pro)

ClinVar: 50229

CAiD: CA143712

gnomAD: N/A