Skip to main content

Table 3 GAA enzyme activity and mutations of 12 patients with IOPD

From: Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

Patient GAA activitya (% of normal) Nucleotide changes Exons Effects on coding protein GAA domains Inheritance References (ClinVar accession number)
1 0 c.876C>G 5 p.Tyr292Xb N-terminal β-sheet FA This report (SCV000925966)
c.1003G>A 6 p.Gly335Arg N-terminal β-sheet MO Kroos et al .[12]
2 0 c.1935C>A 14 p.Asp645Glu Catalytic GH31 FA Hermans et al .[13]
c.1933G>C 14 p.Asp645His Catalytic GH31 MO Lin&Shieh [15]
3 0 c.1099T>C 7 p.Trp367Arg Catalytic GH31 FA Palmer et al. [16]
c.1942G>A 14 p.Gly648Ser Catalytic GH31 MO Huie et al .[17]
4 0 c.1226insG 8 p.Asp409GlyfsX95 Catalytic GH31 FA This report (SCV000925969)
c.2024_2026delACA 14 p.Asn675del Catalytic GH31 MO Wan et al. [18]
5 0 c.1538A>G (hom) 10 p.Asp513Gly Catalytic GH31 MO, FA This report (SCV000925967)
6 0.43 c.781G>A (hom) 4 p.Ala261Thr N-terminal β-sheet MO, FA ClinVar (SCV000925965)
7 0.05 c.1411_1414delGAGA 9 p.Glu471fsX5 Catalytic GH31 MO Wan et al. [18]
c.1933 G>C 14 p.Asp645His Catalytic GH31 FA Lin&Shieh [15]
8 1.46 c.877G>A (hom) 5 p.Gly293Arg N-terminal β-sheet MO, FA Hermans et al. [13]
9 NA c.1941C>G (hom) 14 p.Cys647Trp Catalytic GH31 MO, FA Huie et al. [17]
10 NA c.876C>G (hom) 5 p.Tyr292X N-terminal β-sheet MO, FA This report (SCV000925966)
11 NA c.1895T>G (hom) 14 p.Leu632Argc Catalytic GH31 MO, FA This report (SCV000925968)
12 0.10 c.1327-2A>G IVS8 Splicing - MO Kroos et al. [11]
c.1437G>C 9 p.Lys479Asn Catalytic GH31 FA Wan et al. [18]
  1. aThe activity is expressed as a percent relative to normal control (glucose/hr/mg protein); bthe mutation creates a BfaI restriction site; cthe mutant creates SfcI restriction site. PCR-restriction digest with respective enzyme revealed no mutation in 50 healthy control. IOPD infantile-onset Pompe disease, NA not available. Hom is homozygous mutation and FA and MO mean father and mother, respectively