Table 1.
A List of Trinucleotide Repeat Diseases (TREDs) That We Compiled for This Study
| Abbreviation | Title | Gene | Motif | Repeat location (hg38) | Inheritance | Risk Cutoff | Number of At-Risk Individuals (Families)a |
|---|---|---|---|---|---|---|---|
| DM1 | Myotonic dystrophy 1 (MIM: 160900) | DMPK (MIM: 605377) | CTG | chr19: 45770205–45770264 | AD | 50 | 15 (9) |
| DM2 | Myotonic dystrophy 2 (MIM: 602668) | ZNF9 (MIM: 116955) | CCTG | chr3: 129172577–129172656 | AD | 75 | 0 |
| DRPLA | Dentatorubro-pallidoluysian atrophy (MIM: 125370) | ATN1 (MIM: 607462) | CAG | chr12: 6936729–6936773 | AD | 48 | 0 |
| FXTAS | Fragile X-associated tremor/ataxia syndrome (MIM: 300623) | FMR1b (MIM: 309550) | CGG | chrX: 147912051–147912110 | XLD | 55 | 2 (1) |
| FXS | Fragile X syndrome (MIM: 300624) | FMR1b (MIM: 309550) | CGG | chrX: 147912051–147912110 | XLD | 200 | 0 |
| FRAXE | Mental retardation, FRAXE type (MIM: 309548) | FMR2 (MIM: 300806) | GCC | chrX: 148500638–148500682 | XLR | 200 | 0 |
| FRDA | Friedreich ataxia (MIM: 229300) | FXN (MIM: 606829) | GAA | chr9: 69037287–69037304 | AR | 66 | 0 |
| HD | Huntington disease (MIM: 143100) | HTT (MIM: 613004) | CAG | chr4: 3074877–3074933 | AD | 40 | 5 (4) |
| HDL | Huntington disease-like 2 (MIM: 606438) | JPH3 (MIM: 605268) | CTG | chr16: 87604288–87604329 | AD | 40 | 0 |
| ULD | Unverricht-Lundborg Disease (MIM: 254800) | CSTB (MIM: 601145) | CCCCGCCCCGCG | chr21: 43776444–43776479 | AR | 30 | 0 |
| OPMD | Oculopharyngeal muscular dystrophy (MIM: 164300) | PABPN1 (MIM: 602279) | GCN | chr14: 23321473–23321502 | AD | 12 | 8 (7) |
| SBMA | Spinal and bulbar muscular atrophy (MIM: 313200) | AR (MIM: 313700) | CAG | chrX: 67545318–67545383 | XLR | 36 | 1 (1) |
| SCA1 | Spinocerebellar ataxia 1 (MIM: 164400) | ATXN1 (MIM: 601556) | CAG | chr6: 16327636–16327722 | AD | 39 | 26 (23) |
| SCA2 | Spinocerebellar ataxia 2 (MIM: 183090) | ATXN2 (MIM: 601517) | CAG | chr12: 111598951–111599019 | AD | 33 | 4 (4) |
| SCA3 | Spinocerebellar ataxia 3 (MIM: 109150) | ATXN3 (MIM: 607047) | CAG | chr14: 92071011–92071034 | AD | 60 | 0 |
| SCA6 | Spinocerebellar ataxia 6 (MIM: 183086) | CACNA1A (MIM: 601011) | CAG | chr19: 13207859–13207897 | AD | 20 | 2 (2) |
| SCA7 | Spinocerebellar ataxia 7 (MIM: 164500) | ATXN7 (MIM: 607640) | CAG | chr3: 63912686–63912715 | AD | 34 | 0 |
| SCA8 | Spinocerebellar ataxia 8 (MIM: 603680) | ATXN8OS (MIM: 603680) | CTG/CAG | chr13: 70139384–70139428 | AD | 80 | 3 (3) |
| SCA10 | Spinocerebellar ataxia 10 (MIM: 603516) | ATXN10 (MIM: 611150) | ATTCT | chr22: 45795355–45795424 | AD | 800 | 0 |
| SCA12 | Spinocerebellar ataxia 12 (MIM: 604326) | PPP2R2B (MIM: 604325) | CAG | chr5: 146878729–146878758 | AD | 51 | 0 |
| SCA17 | Spinocerebellar ataxia 17 (MIM: 607136) | TBP (MIM: 600075) | CAG | chr6: 170561908–170562021 | AD | 43 | 52 (48) |
| SCA36 | Spinocerebellar ataxia 36 (MIM: 614153) | NOP56 (MIM: 614154) | GGCCTG | chr20: 2652734–2652757 | AD | 650 | 0 |
| EIEE1 | Epileptic encephalopathy, early infantile, 1 (MIM: 308350) | ARX (MIM: 300382) | GCG | chrX: 25013662–25013691 | XLR | 20 | 0 |
| BPES | Blepharophimosis, epicanthus inversus, and ptosis (MIM: 110100) | FOXL2 (MIM: 605597) | GCN | chr3: 138946021–138946062 | AD | 19 | 1 (1) |
| CCD | Cleidocranial dysplasia (MIM: 119600) | RUNX2 (MIM: 600211) | GCN | chr6: 45422751–45422801 | AD | 27 | 5 (5) |
| CCHS | Central hypoventilation syndrome (MIM: 209880) | PHOX2B (MIM: 603851) | GCN | chr4: 41745972–41746031 | AD | 24 | 11 (11) |
| HFG | Hand-foot-uterus syndrome (MIM: 140000) | HOXA13 (MIM: 142959) | GCN | chr7: 27199925–27199966 | AD | 22 | 2 (2) |
| HPE5 | Holoprosencephaly-5 (MIM: 609637) | ZIC2 (MIM: 603073) | GCN | chr13: 99985449–99985493 | AD | 25 | 0 |
| SD5 | Syndactyly (MIM: 186300) | HOXD13 (MIM: 142989) | GCN | chr2: 176093059–176093103 | AD | 22 | 1 (1) |
| XLMR | Mental retardation, X-linked (MIM: 300123) | SOX3 (MIM: 313430) | GCN | chrX: 140504317–140504361 | XLR | 22 | 0 |
| ALS | Amyotrophic lateral sclerosis (MIM: 105550) | C9orf72 (MIM: 614260) | GGGGCC | chr9: 27573529–27573546 | AD | 31 | 0 |
Inheritance modes are AD (autosomal dominant), AR (autosomal recessive), XLD (X-linked dominant), and XLR (X-linked recessive). Individuals were inferred to be “at risk” by TREDPARSE if , where is the probability that a sample is pathological given the risk cutoff.
a
Total number of individuals assessed in this study: 12,632. Total number of independent families plus unrelated individuals: 8,784.
b
Same genetic locus for FXTAS and FXS but with different risk cutoffs in repeat counts.