3
Case3: Female, 0.8 yr onset, 1.1 yr diagnosis, 8.9 yr report
CasePresentingHPOs: HP:0005165 (Shortened PR interval)
HPOsFreeText: FVC z-score sitting 0.21 (102% pred), FVC z-score supine 0.1 (101% pred), 358 CK U/l, 13.3 GAA activity (nmol/h/mg)^h from cultured fibroblasts, ECG showed delta wave suggestive of Wolff-Parkinson-White syndrome
NotHPOsFreeText: No wheelchair used, no respiratory support
These results were confirmed in a fibroblast cell line from patient 2
Patient2: concentration-dependent effects of AONs 3 and 4 confirmed in a fibroblast cell line from this patient, this concluded that these AONs show in vitro activities sufficient to elevate canonical GAA pre-mRNA splicing and thus enzymatic activity
CasePresentingHPOs:
HPOsFreeText:
CaseNotHPOs:
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CaseAddInfo:
CasePMIDs:
CasePreviousTesting: n/a
CaseGenotypingMethod: n/a
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.923A>C
CAID: CA401364056, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401364056
gnomAD: n/a