Table 3.
Total gene variants identified in amyotrophic lateral sclerosis (ALS) susceptibility genes.
| Gene | Number of Variants | ||
|---|---|---|---|
| ALS susceptibility genes | APEX1 | ||
| ATXN2 | 14 * | * 1 recurrent in 2 pts * 1 recurrent in 7 pts |
|
| CRYM | 2 * | * 1 recurrent in 2 pts | |
| CYP27A1 | 4 | ||
| DAO | 1 | ||
| DCTN1 | 10 * | * 1 recurrent in 3 pts | |
| DPP6 | 1 | ||
| ELP3 | 2 | ||
| EPHA4 | 2 | ||
| HNRNPA2B1 | |||
| HNRNPA3 | 5 * | * 1 recurrent in 3 pts | |
| NEFH | 4 * | * 1 recurrent in 4 pts | |
| NEK1 | 1 | ||
| TAF15 | |||
| TREM2 | 2 | ||
| Total | 48 | 6 recurrent variants |
Specific DNA and protein variants in susceptibility genes are listed in Supplementary Table S3. *: recurrent variants.