Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion

Figure 1

Whole exome sequencing demonstrates compound heterozygous variants in POLG. Pile-ups of sequencing reads show (a) a heterozygous deletion of 22 base pairs in exon 2, c.67_88del, resulting in p.(Gly23Serfs236) and (b) a heterozygous point mutation in intron 19, c.3104 + 3A > T, resulting in skipping of exon 19. The variants are highlighted in blue.

(a)

(b)