Figure 6.

(a) Genomic landscape of the region containing the ABCD1 gene and the repeated 9.7 kb segment reported as a partial pseudogene. This segment comprises exons 7 to 10 of the ABCD1 gene and is repeated in four other locations in the reference genome with approximately 95% identity. (b) Comparison of Sanger sequencing of the reported mutation (p.Gly608Asp) through direct PCR of the segment containing exon 8 and 9 of ABCD1 using genomic DNA as a template (upper) and nested PCR of the same segment after long-range PCR amplification of an approximately 10 kb segment using primers specific to the ABCD1 locus outside of the repeated segment (lower).