Patient8: 47yo

CasePresentingHPOs: HP:0003325, HP:0001513

HPOsFreeText: GAA = 5%, BMI = 30.8, Normal CTA and CT

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: 2yr disease duration, variants in cis

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant: 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_000152.4(GAA):c.1551+1G>C

ClinVar: 554983, https://www.ncbi.nlm.nih.gov/clinvar/variation/554983/

gnomAD: n/a

Patient9: 54yo

CasePresentingHPOs: HP:0003325, HP:0002093, HP:0002315, HP:0004887, HP:0003141, HP:0002870

HPOsFreeText: morning headache, GAA = 7%, smoker, BMI = 23.3, normal CTA, nucleo-capsular and subcortical white matter lacunes

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: 29yr disease duration, variants in cis

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant: 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_000152.4(GAA):c.1551+1G>C

ClinVar: 554983, https://www.ncbi.nlm.nih.gov/clinvar/variation/554983/

gnomAD: n/a

Patient10: 50yo

CasePresentingHPOs: HP:0003325, HP:0004944, HP:0020038

HPOsFreeText: GAA = 3.6%, BMI = 22.4, MCA M1 4mm aneurysm, normal CT

CaseNotHPOs:

NotHPOsFreeText: No cardiovascular risk factor

CaseAddInfo: 13yr disease duration, variants in cis

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant: 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_000152.4(GAA):c.1551+1G>C

ClinVar: 554983, https://www.ncbi.nlm.nih.gov/clinvar/variation/554983/

gnomAD: n/a

Patient11: 62yo

CasePresentingHPOs: HP:0003325, HP:0002093, HP:0004887, HP:0000822

HPOsFreeText: GAA = 5.7%, smoker, BMI = 22.3, basilar artery fenestration, nucleo-capsular and temporo-insular lacunes

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: 24yr disease duration, variants in cis

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant: 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_000152.4(GAA):c.1551+1G>C

ClinVar: 554983, https://www.ncbi.nlm.nih.gov/clinvar/variation/554983/

gnomAD: n/a

Case#: Subject number 1(I), male, 21 days (start of ERT), 31 months (report)

DiseaseAssertion: Infantile Onset Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0002870 (obstructive sleep apnea), HP:0001639 (hypertrophic cardiomyopathy), HP:0200128 (biventricular hypertrophy), HP:0030234 (Highly elevated creatine kinase)

CaseHPOFreeText: moderately to severely decreased left ventricular systolic wall motion, moderate hypertrophy of the left ventricle, severe right ventricular hypertrophy, requires BiPAP at night, patient receives physical, occupational, and speech therapies.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: CK testing: 923 U/L (60–305 U/L is normal), AST: 103 U/L (30–100 U/L is normal), BNP: 1080 pg/mL (0.0–100.0 pg/mL), Hex4: 24.7 mmol/mol Creatinine (≤20 mmol/mol Creatinine is normal)

glucosidase activity: GAA activity #1 was 0.65 micromole/L/h and GAA activity #2 (NBS) 0.22 in dried blood spots (>2.10 micromole/L/h is normal). 4.4 in confirmatory testing (>6.7 is normal).

Variant 1: NM_000152.5(GAA):c.759delC

Variant 1 ClinVarID: 837937

Variant 1 CAid: CA916082438

Variant 2: NM_000152.5(GAA):c.1551+1G>C

Variant 2 ClinVarID: 554983

Variant 2 CAid: CA401367167

Zygosity: Compound heterozygous

ParentalGenotype: N/A

PreviouslyPublished: N/A