Patient13: Male, 46yo at diagnosis, 47yo at ERT

CasePresentingHPOs:

HPOsFreeText: anti rh-GAA antibodies titre = 1:25,699, enzyme (μmol/g/h) = 0.52 (3-20)

CaseNotHPOs:

NotHPOsFreeText: NIV and mobility aid not required

CaseAddInfo: 6yr disease duration, variants in trans

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

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.482_483del

CAID: CA8814879, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8814879

gnomAD: 1.729e-05, http://exac.broadinstitute.org/variant/17-78078864-TCC-T

Patient5: Female, 38yo at diagnosis, 40yo at ERT

CasePresentingHPOs:

HPOsFreeText: anti rh-GAA antibodies titre = neg, enzyme (μmol/g/h) = 0.8 (3-20)

CaseNotHPOs:

NotHPOsFreeText: NIV and mobility aid not used

CaseAddInfo: 26yr disease duration, variants in trans

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

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.482_483del

CAID: CA8814879, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8814879

gnomAD: 1.729e-05, http://exac.broadinstitute.org/variant/17-78078864-TCC-T

Patient8: Female, 41yo at diagnosis, 48yo at ERT

CasePresentingHPOs:

HPOsFreeText: anti rh-GAA antibodies titre = 1:1600, enzyme (μmol/g/h) = 0.23 (2-10), mobility aid required before and after ERT

CaseNotHPOs:

NotHPOsFreeText: NIV not required

CaseAddInfo: 7yr disease duration, variants in trans

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.3:c.482_483del

CAID: CA8814879, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8814879

gnomAD: 1.729e-05, http://exac.broadinstitute.org/variant/17-78078864-TCC-T

Variant2: NM_000152.4(GAA):c.692+5G>T

ClinVar: 562532, https://www.ncbi.nlm.nih.gov/clinvar/variation/526532/

gnomAD: 8.596e-06, http://exac.broadinstitute.org/variant/17-78079698-G-T

Case18: Female, 16 years onset, 19 years diagnosis

CaseAddInfo: Late-Onset Pompe Disease

Case1: Female, 16 years onset, 18 years diagnosis, 38 years report, France

CasePresentingHPOs: HP:0002540, HP:0002878, HP:0004887 (Inability to walk, Respiratory failure, Respiratory failure requiring assisted ventilation)

HPOsFreeText: Lost ambulation at 25 years, Started invasive ventilation at 25 years, Started ERT given every other week at a dose of 20 mg/kg at 29 years for 110 months, Peak Anti-rhGAA antibodies at 1:51,200, FVC at 0.43/11 (L / % expected), MIP at 17 (cm H2O), MEP at 19 (cm H2O), Time off ventilation increased from 10 to 40 (min/24 h), Total Motor Function Measure from 38 to 29

CaseNotHPOs: HP:0030148 (Heart murmur)

NotHPOsFreeText: No adverse reaction to ERT was recorded

CaseAddInfo: Late Onset Pompe Disease