Table 3.
Class | MOI | Diagnosis | Expanded | Affected | Not Expanded |
---|---|---|---|---|---|
PolyQ | AD | HD | 13 | 13 | 105 |
PolyQ | AD | SCA1 | 3 | 3 | 115 |
PolyQ | AD | SCA3 | 1 | 1 | 117 |
PolyQ | AD | DRPLA | 2 | 2 | 116 |
PolyQ | AD | SBMA | 1 | 1 | 117 |
5' UTR | X | FRAXA | 16 | 16 | 102 |
5' UTR | X | FRAXA (pre) | 34 | 21 | 84 |
3' UTR | AD | DM1 | 17 | 17 | 101 |
Intron | AR | FRDA | 25 | 14 | 93 |
Total (FRAXA)a | 78 | 66 | 40 | ||
Total (FRAXA pre) | 96 | 72 | 22 | ||
Total (no FRAXA) | 62 | 51 | 56 |
The WGS_PF cohort consists of 118 individuals sequenced with Illumina PCR-free library preparation. Only the total number of samples is listed, rather than actual samples. Details of samples are available in Dolzhenko et al., 2017.17
Total only includes FXS individuals, and no intermediate pre-expansions. The “expanded” and “not expanded” entries add to 118 for each row.