CaseOPOPD-71: Female, Taiwan, Birth diagnosis

HPOsFreeText: GAA (MS/MS) enzyme activity at 0.99 umol/hr/L

GenotypingMethod: GAA Gene Sequencing and PCR Amplification

Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

Variant2: NM_000152.4:c.2431dupC (p.Leu811Profs*?)

CAID: CA658795289 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.2431dupC

gnomAD: Not in gnomAD

CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele

Patient9: Female, 9mo at diagnosis, 10mo at ERT

CasePresentingHPOs:

HPOsFreeText: classic IOPD, poor response to ERT, Pompe muscle pathology score = 3.7, Glycogen = 43.1 Vv(PAS + /mf)%, larger empty vacuoles = 43.2 Vv (LEV/mf)%, Autophagic vacuoles = 0,31 %/mf

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: homozygous, biopsy taken from  musculus vastus lateralis

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant: NM_000152.3:c.2431_2432insC

CAID: CA658795289, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795289

gnomAD: n/a