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    Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients
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    1. ClingenBaseline 23 Oct 2026
      87

      Case#: 87, Gender N/A, 6 months old when diagnosed, Asian

      DiseaseAssertion:Pompe disease

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText:N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: The patient did not present any symptoms, diagnosed was made based on the predicted impact of the variant by PolyPhen-2

      CasePreviousTesting: The GAA gene was sequenced using NGS and resequenced for confirmation using Sanger.

      Dried Blood spot test found an GAA activity of 4.6 pmol/h/disk with a reference value of 6.5 pmol/h/disk

      enzyme activity in fibroblast was recorded to be 5.4 nmol/h/mg protein.

      Variants: Variant1: (Two mutated alleles with heterozygous mutations)

      Variant1.1: NM_000152.5(GAA):c.752C>T (p.Ser251Leu)

      ClinVar: 346310

      CAID: CA8815007

      gnomAD: Highest population MAF = 0.002234 (East Asian)

      Variant1.2: NM_000152.5(GAA):c.761C>T (p.Ser254Leu)

      ClinVar: 330447

      CAID: CA8815009

      gnomAD: Highest popu;ation MAF= 0.002235 (East Asians)

      Variant2: NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)

      ClinVar: 546808

      CAID: N/A

      gnomAD: N/A

      ParentalGenotype:N/A

      PreviouslyPublished:N/A

      ClinVarID:546808 CAID:CA8815007 ClinVarID:346310 ClinVarID:330447 CAID:CA8815009 PreviousTesting:GAAmeasurement Gene:GAA General HGNC:4065 CaseInfo Individual inferred_gene_hgnc:4065 inferred_gene_source:hgnc_tag GAA variant
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    www-nature-com.libproxy.lib.unc.edu/articles/s10038-019-0603-7