Table 2 Copy number variations of SMN2 and NAIP genes in controls (n = 57) and SMA patients (n = 148) with homozygous deletion of exon 7 of SMN1 gene
Modifier gene | Copy no. | Patients (n = 148) | Controls (n = 57) | P value |
|---|---|---|---|---|
SMN2 exon 7 | 0 |  | 6 (10.5%) | < 0.001* |
1 | Â | 11 (19.3%) | ||
2 | 34 (23.0%) | 24 (42.1%) | ||
3 | 38 (25.7%) | 10 (17.5%) | ||
4 | 68 (45.9%) | 5 (8.8%) | ||
5 | 3 (2.0%) | 1 (1.8%) | ||
6 | 5 (3.4%) | Â | ||
SMN2 exon 8 | 0 |  | 5 (8.8%) | < 0.001* |
1 | 1 (0.7%) | 9 (15.8%) | ||
2 | 42 (28.4%) | 22 (38.6%) | ||
3 | 46 (31.1%) | 20 (35.1%) | ||
4 | 53 (35.8%) | 1 (1.8%) | ||
5 | 3 (2.0%) | Â | ||
6 | 3 (2.0%) | Â | ||
NAIP exon 5 | 0 | 49 (33.1%) | 1 (1.8%) |  < 0.001* |
1 | 51 (34.5%) | 4 (7.0%) | ||
2 | 47 (31.8%) | 36 (63.2%) | ||
3 | 1 (0.7%) | 16 (28.1%) |