Skip to main content
. 2019 Mar 25;43:553–561. doi: 10.1016/j.ebiom.2019.03.048

Fig. 5.

Fig. 5

c.510C>T worsens splicing outcome in skeletal muscle cells from compound heterozygous and homozygous IVS1 patients. (A) Flanking exon RT-PCR of GAA exon 2 in myoblasts. Patient 16: compound heterozygous for IVS1, c.510C>T absent; Patient 4: compound heterozygous for IVS1, c.510C>T present on IVS1 allele; Patient 18: homozygous for IVS1, homozygous for c.510C>T. Splice products N, SV6, SV5, SV3 and SV2 are indicated. *: structural variant (see Suppl. Fig. S4). Splice product N (normally spliced product) is highly expressed in patient 16 due to the presence of the c.2481+102_2646+31del variant on the second allele (which allows normal expression of GAA product N). (B) Quantification of splice product N using RT-qPCR. (C) Quantification of splice products SV2 and SV3. (D) Ratio of SV2 and SV3. (E) GAA enzymatic activity. Data in C-D and F represent means ± SD (n= 3 biological replicates).