Fig. 2: Identification of an expanded CCG repeat within the 5′-UTR of ABCD3 in OPDM.
From: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
A srWGS data (AUS1-V:3) in IGV showing ~50% of reads mapped to the ABCD3 promoter contain expanded repetitive sequences. B Identification of ABCD3 CCG expansion causing OPDM in srWGS through Genomics England 100,000 Genome Project. C Outputs from the Bionano Access® Software showing the presence of an expansion within the 5′-UTR of ABCD3 in an OPDM individual relative to a healthy control. D Electropherogram of repeat-primed PCR. The upper panel showed no-repeat expansion in the unaffected individuals, while the lower panel showed a saw-tooth tail pattern of the repeat expansion in an affected OPDM individual (FR2-II:1).
