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The size of the EcoRI/SacI/NsiI HNPP deletion junction fragment reported in our manuscript is actually 7.3 kb, not 7.8 kb, due to the presence of an NsiI site located outside of the hotspot region in both CMT1A-REPs which changes the size of this fragment. The sizes of the CMT1A duplication junction fragments and the region of exchange in both duplication and deletion patients are unaffected by this size discrepancy.

Figure: This Southern blot contains EcoRI + SacI digested (E/S) or EcoRI + SacI + NsiI digested (E/S/N) DNA from YACs spanning the proximal and distal CMT1A-REPs (yc49H7 and yc225A3), genomic DNA from HNPP deletion patients (BAB944 and BAB957), genomic DNA from CMT1A duplication patients (BAB603 and BAB681) and genomic DNA from an unaffected control individual. The blot was hybridized with the 6.0-kb insert from plasmid pLR6.0 which originates from the distal CMT1A-REP and spans the recombination hotspot previously described. Arrows indicate the locations of HNPP deletion and CMT1A duplication junction fragments. Note that the 7.8-kb HNPP deletion junction fragments change to 7.3 kb in the triple digest while the sizes for the CMT1A duplication fragments remain as previously reported (3.2 kb for E/S and 1.7 kb for E/S/N).