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    Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease
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    1. ClingenBaseline 22 Oct 2026
      These results were confirmed in a fibroblast cell line from patient 2

      Patient2: concentration-dependent effects of AONs 3 and 4 confirmed in a fibroblast cell line from this patient, this concluded that these AONs show in vitro activities sufficient to elevate canonical GAA pre-mRNA splicing and thus enzymatic activity

      CasePresentingHPOs:

      HPOsFreeText:

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: n/a

      CaseGenotypingMethod: n/a

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.3:c.923A>C

      CAID: CA401364056, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401364056

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4027 CA401364056 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    sciencedirect.com/science/article/pii/S2162253117301397