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. 2024 Nov 26;15(12):1515. doi: 10.3390/genes15121515

Figure 4.

Figure 4

Pathogenic effect of the ARSA variant c.854+1dup. (A) Capillary electrophoresis of cDNA amplification products from exon 4 to exon 5 of the ARSA gene in two control individuals and two siblings heterozygous for the c.854+1dup variant. We obtained an amplicon of the expected size (216 bp) in wild-type individuals, while the carrier siblings showed one amplicon of the expected size and another with an extra base pair (217 bp). Areas under the curve are equivalent to the amount of amplicon detected, with the amount of the c.854+1dup allele (PET171: 3572 fluorescent units (FU); PET172: 3597 FU) being about 60% of the wild-type allele (PET171: 5992 FU; PET172: 5995 FU). (B) Schematic representation of the results in panel (A), showing that splicing of the mutant allele adds an extra base to exon 4 (as verified by Sanger sequencing of the amplicons), leading to a frameshift and the appearance of a premature termination codon.