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    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 22 Oct 2026
      PD20

      Patient20: Female, Northern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1320_1322del (p.Met440del)

      ClinVar: 526518, https://www.ncbi.nlm.nih.gov/clinvar/variation/526518/

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)

      ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

      gnomAD: 0.0002146, http://exac.broadinstitute.org/variant/17-78092070-C-T

      Individual CaseInfo Variant ClinVarID:526518 ClinVarID:4034 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    liebertpub.com/doi/full/10.1089/gtmb.2016.0424