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  1. Last 7 days
  2. www.liebertpub.com www.liebertpub.com
    Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations | Genetic Testing and Molecular Biomarkers
    1
    1. ClingenBaseline 21 Oct 2026
      PD22

      Patient22: Female, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.3:c.1241del

      CAID: CA913184736, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184736

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.2662G>T (p.Glu888Ter)

      ClinVar: 578595, https://www.ncbi.nlm.nih.gov/clinvar/variation/578595/

      gnomAD: 1.65e-05, http://exac.broadinstitute.org/variant/17-78092467-G-T

      Individual CaseInfo Variant CA913184736 ClinVarID:578595 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    liebertpub.com/doi/full/10.1089/gtmb.2016.0424
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease
    2
    1. ClingenBaseline 21 Oct 2026

      CaseOPOPD-72: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.31 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2662G>T (p.Glu888Ter)

      ClinVar: 578595 https://www.ncbi.nlm.nih.gov/clinvar/variation/578595/

      gnomAD: East Asian 2.719e-4, Overall 1.998e-5 http://gnomad.broadinstitute.org/variant/17-78092467-G-T

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 2 other patients have the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:578595 ClinVarID:92467 inferred_gene_hgnc:1393 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 21 Oct 2026

      CaseLP2-10: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.06 umol/hr/L, Serum CK at 670 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.752C>T (p.Ser251Leu)

      ClinVar: 325781 https://www.ncbi.nlm.nih.gov/clinvar/variation/325781/

      gnomAD: East Asian 2.760e-3, Overall 3.540e-4 http://gnomad.broadinstitute.org/variant/17-78081415-C-T

      Variant2: NM_000152.4:c.761C>T (p.Ser254Leu)

      ClinVar: 325782 https://www.ncbi.nlm.nih.gov/clinvar/variation/325782/

      gnomAD: East Asian 2.759e-3, Overall 1.947e-4 http://gnomad.broadinstitute.org/variant/17-78081424-C-T

      Variant3: NM_000152.4:c.2662G>T (p.Glu888Ter)

      ClinVar: 578595 https://www.ncbi.nlm.nih.gov/clinvar/variation/578595/

      gnomAD: East Asian 2.719e-4, Overall 1.998e-5 http://gnomad.broadinstitute.org/variant/17-78092467-G-T

      CaseAddInfo: Late Onset Pompe Disease, Nomenclature indicates Variants 1 and 2 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:325781 ClinVarID:325782 ClinVarID:578595 inferred_gene_hgnc:1393 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5524447/