Table 4.
Low Complexity Sequence (LCS) Indels in Carriers of a Pathological G4C2 Expansion and in Noncarriers of the Flanders-Belgian and European cohorts
| Diagnosis | Number of individuals | Indel genomic mutation namea,b |
|---|---|---|
| Flanders-Belgian cohort | ||
| Patients expansion carriers (10/27) | ||
| FTLD | 7 | g.26747_26756delGTGGTCGGGG |
| FTLD–ALS | 2 | g.26747_26756delGTGGTCGGGG |
| FTLD–ALS | 1 | g.26742_26764delGGGGCGTGGTCGGGGCGGGCCCG |
| Patients without expansion (5/290) | ||
| FTLD | 1 | g.26747_26751delGTGGT |
| FTLD | 3 | g.26752_26762delCGGGGCGGGCC |
| FTLD—ALS | 1 | g.26752_26774delCGGGGCGGGCCCGGGGGCGGGCC |
| Controls (4/752) | ||
| Control | 3 | g.26752_26762delCGGGGCGGGCC |
| Control | 1 | g.26746_26761delCGTGGTCGGGGCGGGC |
| European cohort | ||
| Patients expansion carriers (14/57) | ||
| FTLD | 6 | g.26747_26756delGTGGTCGGGG |
| FTLD | 1 | g.26747_26751delGTGGT |
| FTLD | 1 | g.26747_26768delGTGGTCGGGGCGGGCCCGGGGG |
| FTLD | 1 | g.26753_26764delGGGGCGGGCCCG |
| FTLD | 1 | g.26775_26776insG |
| FTLD | 1 | g.26775_26776insGGGGCGGGCCCG |
| FTLD–ALS | 1 | g.26747_26756delGTGGTCGGGG |
| FTLD–ALS | 1 | g.26746_26773del CGTGGTCGGGGCGGGCCCGGGGGCGGGC |
| FTLD–ALS | 1 | g.26752_26762delCGGGGCGGGCC |
a
The nucleotide sequence GTGGT is most frequently deleted in the LCS adjacent to the G4C2 repeat in C9orf72 (indicated in bold).
b
gDNA numbering relative to reverse complement of contig AL451123.12 and starting at nucleotide 1.