to assess the potential effects of AMO treatment on GAA normal spliced mRNA expression and activity, as well as on the pathological phenotype in muscle cells, we obtained myoblasts from a LO-GSDII patient who presented the c.-32-13T > G mutation in compound heterozygosity with the c.2646_2646+1delTG mutation in exon 18
Patient2: myoblasts from this patient were used to measure the effects of AMO tratment on GAA normal spliced mRNA expression/activity and the pathological phenotype in muscle cells. Under basal conditions, these myotubes retained 20% of enzymatic activity compared to WT. AMO treatment partially restored the correctly splice variant of GAA mRNA (confirmed via real-time PCR).
CasePresentingHPOs:
HPOsFreeText: LOPD
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo:
CasePMIDs:
CasePreviousTesting: n/a
CaseGenotypingMethod: comparative DNA vs. mRNA sequencing
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.2646_2647del
CAID: CA913184745, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184745
gnomAD: n/a