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  1. Last 7 days
  2. www.jstage.jst.go.jp www.jstage.jst.go.jp
    Presence of Hypertrophic Cardiomyopathy Related Gene Mutations and Clinical Manifestations in Vietnamese Patients With Hypertrophic Cardiomyopathy
    1
    1. ClingenBaseline 21 Oct 2026

      CaseHCM051: 39 yrs report, Vietnam, Asian

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      FamilyInfo: Family history of hypertrophic cardiomyopathy, Has 2 siblings where the MYH7 and MYOZ2 mutations are solely present in the brother and sister respectively, Brother has LVH and palpitations while sister has no symptoms whatsoever

      CasePresentingHPOs: HP:0100749, HP:0001712, HP:0031295 (Chest pain, Left ventricular hypertrophy, Left atrial enlargement)

      HPOsFreeText: Maximal LV thickness 18 mm

      CaseNotHPOs: HP:0005110, HP:0001297, HP:0004756 (Atrial fibrillation, Stroke, Ventricular tachycardia)

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CasePreviousTesting: The gene panel included 10 sarcomeric genes (MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL2, MYL3, ACTC1, TNNC1, MYH6), 9 genes encoding Z-disk components and Ca2+ homeostasis factors (LDB3, CSRP3, TCAP, VCL, ACTN2, MYOZ2, NEXN, JPH2, PLN), and 4 genes involved in HCM phenocopies (GLA, LAMP2, PRKAG2, TTR), All probands had left ventricular wall thickness >= 15 mm and no other diseases that can cause secondary hypertrophy

      CaseGenotypingMethod: The coding region, flanking sequences, and untranslated regions of each gene were enriched by LC-PCR, amplified, and sequenced on the Illumina MiSeq or MiniSeq platform. Identified variants were then filtered for pathogenicity and confirmed by Sanger sequencing.

      Variant: NM_000257.4(MYH7):c.3424G>A (p.Glu1142Lys)

      ClinVar: 181222 https://www.ncbi.nlm.nih.gov/clinvar/variation/181222/

      gnomAD: Not in gnomAD

      Multiple Gene Variants

      (1) MYOZ2 Variant

      Variant: NM_016599.4:c.326C>G (p.Pro109Arg)

      CAID: CA104971226 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA104971226

      gnomAD: Not in gnomAD

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:AutosomalDominant PreviousTesting:Full PreviousTesting:Additional Mutation:Germline SupplementalData MultipleGeneVariants FamilyInfo ClinVarID:181222 inferred_gene_hgnc:1330 inferred_gene_source:CAID Cardiomyopathy Annotation
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    jstage.jst.go.jp/article/circj/83/9/83_CJ-19-0190/_html/-char/en
  3. journals.lww.com journals.lww.com
    A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture
    2
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    journals.lww.com/md-journal/Pages/ArticleViewer.aspx
  4. circres.ahajournals.org circres.ahajournals.org
    Myozenin 2 Is a Novel Gene for Human Hypertrophic Cardiomyopathy
    4
    1. ClingenBaseline 21 Oct 2026
      o determine the frequency of MYOZ2 mutation in HCM, we screened all exons and exon–intron boundaries of MYOZ2 in 516 probands by direct sequencing. We detected another heterozygous missense A→G mutation at nucleotide 50 278 in a white proband who had 2 deceased siblings with HCM. The mutation changed amino acid isoleucine 246, a conserved amino acid, to methionine

      Case 2: male, Dx = n/a, variant identified via direct sequencing

      HP:0001712 (left ventricular hypertrophy)

      Variant: NM_016599.4(MYOZ2):c.738A>G (p.Ile246Met)

      non-LOF

      ClinVar ID: 30509, conflicting interpretations of pathogenicity,<br /> https://www.ncbi.nlm.nih.gov/clinvar/variation/30509/

      ExAC Score: 0.001897, http://gnomad.broadinstitute.org/variant/4-120107298-A-G

      Case Individual Variant GenotypingMethod inferred_gene_hgnc:1330 inferred_gene_source:RefSeq UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      The index case presented at 12 years of age with symptoms of diastolic heart failure and episodes of syncope (supplemental Table I available in the online data supplement available at http://circres.ahajournals.org.). She had severe left ventricular hypertrophy with a septal thickness of 3.2 cm, atrial fibrillation, and runs of ventricular tachycardia.

      Case: Family 109, female, Dx = 12 yrs, septal thickness 3.2cm

      Family had 6 affected individuals sharing MYOZ2 haplotype 4q26-q27

      HP:0001635, HP:0001279, HP:0001712, HP:0005110, HP:0004755

      heart failure, syncope, left ventricular hypertrophy, atrial fibrillation, supraventricular tachycardia

      Variant: NM_016599.4(MYOZ2):c.142T>C (p.Ser48Pro)

      Pathogenic, non-LOF

      ClinVar ID: 30508 https://www.ncbi.nlm.nih.gov/clinvar/variation/30508/

      Not in ExAC or gnomAD

      Individual Segregation Variant Case inferred_gene_hgnc:1330 inferred_gene_source:RefSeq UNC Biocuration Core
    3. ClingenBaseline 21 Oct 2026
      o determine the frequency of MYOZ2 mutation in HCM, we screened all exons and exon–intron boundaries of MYOZ2 in 516 probands by direct sequencing. We detected another heterozygous missense A→G mutation at nucleotide 50 278 in a white proband who had 2 deceased siblings with HCM. The mutation changed amino acid isoleucine 246, a conserved amino acid, to methionine

      Case 2: male, Dx = n/a, variant identified via direct sequencing

      HP:0001712 (left ventricular hypertrophy)

      Variant: NM_016599.4(MYOZ2):c.738A>G (p.Ile246Met)

      non-LOF

      ClinVar ID: 30509, conflicting interpretations of pathogenicity,<br /> https://www.ncbi.nlm.nih.gov/clinvar/variation/30509/

      ExAC Score: 0.001897, http://gnomad.broadinstitute.org/variant/4-120107298-A-G

      Case Individual Variant GenotypingMethod inferred_gene_hgnc:1330 inferred_gene_source:RefSeq UNC Biocuration Core
    4. ClingenBaseline 21 Oct 2026
      The index case presented at 12 years of age with symptoms of diastolic heart failure and episodes of syncope (supplemental Table I available in the online data supplement available at http://circres.ahajournals.org.). She had severe left ventricular hypertrophy with a septal thickness of 3.2 cm, atrial fibrillation, and runs of ventricular tachycardia.

      Case: Family 109, female, Dx = 12 yrs, septal thickness 3.2cm

      Family had 6 affected individuals sharing MYOZ2 haplotype 4q26-q27

      HP:0001635, HP:0001279, HP:0001712, HP:0005110, HP:0004755

      heart failure, syncope, left ventricular hypertrophy, atrial fibrillation, supraventricular tachycardia

      Variant: NM_016599.4(MYOZ2):c.142T>C (p.Ser48Pro)

      Pathogenic, non-LOF

      ClinVar ID: 30508 https://www.ncbi.nlm.nih.gov/clinvar/variation/30508/

      Not in ExAC or gnomAD

      Individual Segregation Variant Case inferred_gene_hgnc:1330 inferred_gene_source:RefSeq UNC Biocuration Core
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    circres.ahajournals.org/content/100/6/766