12
Case12: Female, 5 yr onset, 7.8 yr diagnosis, 7.8 yr report
HPOsFreeText: FVC z-score sitting 0.62 (108% pred), FVC z-score supine 0.35 (104% pred), 100% MRC Scale, 1003 CK U/l, 11.6 GAA activity (nmol/h/mg)^h from cultured fibroblasts
NotHPOsFreeText: No wheelchair used, No respiratory support
10
Case10: Male, 2.5 yr onset, 3 yr diagnosis, 13 yr report
CasePresentingHPOs: HP:0001371 (Contractures)
HPOsFreeText: FVC z-score sitting -3.01 (66% pred), FVC z-score supine -4.09 (54% pred), 84% MRC Scale, 1960 CK U/l, 8.6 GAA activity (nmol/h/mg)^h from cultured fibroblasts
NotHPOsFreeText: No wheelchair used, No respiratory support
3
Patient3: male, German
CasePresentingHPOs: HP:0003677, HP:0003236, HP:0003325, HP:0003327
HPOsFreeText: CK < 10x increase , CK = 1729 U/L, reduced alpha-glucosidase activity, treated with ERT
CaseNotHPOs: HP:0002093, HP:0003457
CaseAddInfo: onset after 30yo, previously diagnosed with Brugada Syndrome, but Pompe was confirmed via Sanger Sequencing. Asymptomatic brother also diagnosed with Pompe.
CasePreviousTesting: same as group, EMG
CaseGenotypingMethod: same as group
Variant1: NM_000152.4(GAA):c.2331+2T>A
ClinVar: 371281, https://www.ncbi.nlm.nih.gov/clinvar/variation/371281/
gnomAD: n/a
Variant2: 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
(Supplementary Table S3 shows details, IgG trajectories, and outcomes).
Patient 11 - LOPD
Variant1: NM_000152.4(GAA):c.670C>T (p.Arg224Trp)
ClinVar: 189188, https://www.ncbi.nlm.nih.gov/clinvar/variation/189188/
gnomAD: 0.00002184, http://gnomad.broadinstitute.org/variant/17-78079671-C-T
Variant2: NM_000152.4(GAA):c.2331+2T>A
ClinVar: 371281, https://www.ncbi.nlm.nih.gov/clinvar/variation/371281/
gnomAD: 0.000004033, http://gnomad.broadinstitute.org/variant/17-78090910-T-A