Case#: P 8, Female, 3.7 months old when started ERT (Died at 36.8 months), German

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001639 , HP:0001252 , HP:0003701, HP:0006532

(Hypertrophic cardiomyopathy, Muscular hypotonia, Proximal muscle weakness, Recurrent pneumonia)

CaseHPOFreeText: Recurrent pneumonia and GER were complications during ERT

Patient required ventilation and tube feeding

The best and last motor status was sitting.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: CRIM status is positive in patient

Antibody titer is 1:4,000

Variant: NM_000152.5(GAA):c.266G>A (p.Arg89His)

ClinVar: 283219

CAID: CA8814833

gnomAD: Highest population MAF= 0.001168 in Ashkenzai Jewish

Variant: c.104T>C (p.Phe35Ser)

ClinVar: N/A

CAID: CA401360259

gnomAD: N/A

ParentalGenotype: The maternal allele carried the c.266G>A variant

The paternal allele carried the c.104T>C variant

PreviouslyPublished: N/A

Patient1: Female, 3mo at diagnosis, 4mo at ERT

CasePresentingHPOs:

HPOsFreeText: classic IOPD, moderate response to ERT, Pompe muscle pathology score = 2.2 (a), 3.3(b), Glycogen = 59.4(a), 63.8(b) Vv(PAS + /mf)%, larger empty vacuoles = 6.2(a), 18.3(b) Vv (LEV/mf)%, autophagic vacuoles = 0,25; 0 %/mf

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: biopsy taken from  musculus vastus lateralis

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.3:c.104T>C

CAID: CA401360259, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401360259

gnomAD: n/a

Variant2: c.266 C > A This is the variant listed in the paper, but I believe this is a typo as both Clinvar and the allele registry have this position listed as 'G' rather than 'C'

NM_000152.4(GAA):c.266G>A (p.Arg89His)

ClinVar: 283219, https://www.ncbi.nlm.nih.gov/clinvar/variation/283219/#summary-evidence

gnomAD: 7.795e-05, http://exac.broadinstitute.org/variant/17-78078651-G-A