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Mutation and variation spectra for selected dominant HSP genes
| Gene (HSP sybtype) | SPAST (SPG4) | REEP1 (SPG31) | KIAA0196 (SPG8) |
|---|---|---|---|
| Relevant pathomechanism | Haploinsufficiency | Haploinsufficiency | (controversial) |
| Large inactivating deletion mutations in HSP patients | yes [33] | yes [44] | no [present study] |
| Fraction of small stop/indel mutations in HSP patients | ~45 % [45] | ~60 % [44, 46] | 0 % [10, and references therein] |
| Small stop/indel variants listed in exome variant server | 0 | 0 | 3 |
