Table 2.
Summary of disease type and severity, subcellular localization, R-loops, and DNA damage levels associated with WT DHX9 and DHX9 variants
| Variant type (individual IDs) | Disease | NDD severity | DHX9 location | DSB pattern and level | R-loop pattern and level |
|---|---|---|---|---|---|
| WT | – | – | nuclear | scattered, low | gathered, + |
| Truncating (8, 10, M42-1) | NDD | mild | nuclear and cytoplasmic | ubiquitous, + | gathered, + |
| NLS missense (3, 6, 12) | NDD | severe | cytoplasmic | ubiquitous, + | gathered, + |
| Missense (1) | NDD | severe | nuclear | ubiquitous, ++ | ubiquitous, ++ |
| Missense (2, 5, 9, 11) | NDD | mild | nuclear or nucleolar | ubiquitous, low | gathered, low |
| Missense (15, 16, 17) | CMT | – | nucleolar | ubiquitous, low | gathered, low |
Abbreviations: WT, wild type; NLS, nuclear localization signal; NDD, neurodevelopmental disease; CMT, Charcot-Marie-Tooth disease; DSB, double-stranded break; +, increased; ++, highly increased.