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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 21 Oct 2026
      PD14

      Patient14: Male, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1411_1414delGAGA (p.Glu471Profs)

      ClinVar: 188874, https://www.ncbi.nlm.nih.gov/clinvar/variation/188874/

      gnomAD: 1.688e-05, http://exac.broadinstitute.org/variant/17-78083827-CGAGA-C

      Variant2: NM_000152.3:c.2376_2377insCA

      CAID: CA913184735, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184735

      Individual CaseInfo Variant ClinVarID:188874 CA913184735 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    liebertpub.com/doi/full/10.1089/gtmb.2016.0424