TABLE 4.
Correlation between genotype and phenotype in GA1 patients: comparison of the four most common variants from 47 patients.
| c.533G > A | c.1064G > A | c.1147C > T | c.1244-2A > C | P value | |||||
| n | % | n | % | n | % | n | % | ||
| Case | 7 | 14.9 | 12 | 25.5 | 5 | 10.6 | 23 | 48.9 | |
| Age of onset (months) | 5.6 (5∼6) | 5.9 (0∼17.3) | 9.25 (4∼14.5) | 7.3 (0.3∼24.3) | 0.735 | ||||
| Age of diagnosis (months) | 7.9 (2∼66) | 14.95 (0.7∼89.8) | 5.8 (3.4∼42.8) | 16.5 (0.9∼110.8) | 0.454 | ||||
| NBS | 2 | 28.6 | 1 | 8.3 | 2 | 40.0 | 5 | 21.7 | 0.484 |
| Nervous system | |||||||||
| Macrocephaly | 2 | 28.6 | 3 | 25.0 | 1 | 20.0 | 9 | 39.1 | 0.758 |
| Movement disorder | 3 | 40.0 | 7 | 60.0 | 2 | 40.0 | 9 | 40.0 | 0.742 |
| Muscular hypotonia | 3 | 40.0 | 7 | 60.0 | 1 | 20.0 | 8 | 30.0 | 0.426 |
| Mental retardation | 3 | 40.0 | 7 | 60.0 | 1 | 20.0 | 8 | 30.0 | 0.426 |
| Seizure | 4 | 60.0 | 5 | 40.0 | 1 | 20.0 | 11 | 50.0 | 0.613 |
| Gastrointestinal system | |||||||||
| Diarrhea | 1 | 20.0 | 0 | 0.0 | 1 | 10.0 | 2 | 10.0 | 0.682 |
| Failure to thrive | 0 | 0.0 | 0 | 0.0 | 1 | 10.0 | 4 | 20.0 | 0.458 |
| Vomiting | 1 | 20.0 | 1 | 10.0 | 2 | 20.0 | 2 | 10.0 | 0.860 |
| Feeding difficulty | 0 | 0.0 | 2 | 30.0 | 4 | 30.0 | 5 | 20.0 | 0.521 |
| Biochemical results (before treatment) | |||||||||
| C5DC (μ mol/L) | 1.04 (0.26∼3.37) | 2.08 (0.38∼5.13) | 1.49 (0.94∼2.33) | 1.00 (0.11∼4.48) | 0.826 | ||||
| C5DC/C8 | 15.64 (3.04∼19.43) | 30.18 (4.45∼51.54) | 22 (12.42∼45.91) | 28.63 (2.7∼161.4) | 0.251 | ||||
| GA (mmol/molCr) | 404.69 (40.2∼1146.3) | 409.17 (8.79∼1550.19) | 742 (511.53∼1093.04) | 773.44 (14.09∼2857.3) | 0.402 | ||||
| Outcome | 0.491 | ||||||||
| Normal | 2 | 2 | 3 | 8 | |||||
| Abnormal | 4 | 8 | 2 | 13 | |||||
| NA | 1 | 2 | 2 | ||||||
NBS, newborn screening; NA, not available.