13
Case13: Male, 5 yr onset, 2 yr diagnosis, 7.6 yr report
HPOsFreeText: Respiratory support at night, FVC z-score sitting -1.77 (78% pred), FVC z-score supine -1.72 (79% pred), 100% MRC Scale, 436 CK U/l, Deficent GAA activity (nmol/h/mg)^h from cultured fibroblasts
NotHPOsFreeText: No wheelchair used
Supplement Table 1)
Patient7: 6yo
CasePresentingHPOs: HP:0001638
HPOsFreeText: rhGAA dosage = 20 QW, independent walker
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo: 12days old at ERT start
CasePMIDs:
CasePreviousTesting: same as group
CaseGenotypingMethod: same as group
Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)
ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/
gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A
Variant2: NM_000152.3:c.1062C>G
CAID: CA401364789, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401364789
gnomAD: n/a
Variant3: NM_000152.4(GAA):c.1286A>G (p.Gln429Arg)
ClinVar: 284497, https://www.ncbi.nlm.nih.gov/clinvar/variation/284497/
gnomAD: 0.0007528, http://gnomad.broadinstitute.org/variant/17-78082587-A-G