Table 1.
Comparison of phenotypes between R288X and non-R288X patients
| Phenotypes | Group | Total | |
|---|---|---|---|
| R288X | Non-R288X | ||
| Number of patients | 93 | 32 | 125 |
| Psychomotor delay | 93/93(100%) | 31/32(96.9%) | 124/125(99.2%) |
| Microcephaly | 53/93(57%) | 18/32(56.3%) | 71/125(56.8%) |
| Epilepsy | 76/93(81.7%) | 22/32(68.8%) | 98/125(78.4%) |
| Dystonia/Movement disorder | 55/93(59.1%) | 25/32(78.1%) | 80/125(64%) |
| Sit or walk independently | 14/93(15.1%) | 2/32(6.3%) | 16/125(12.8%) |
| Developmental stagnation/failure to thrive | 93/93(100%)A | 7/32(21.9%)B | 100/125(80%) |
| Development delay | 91/93(97.8%)C | 27/32(84.4%)D | 118/125(94.4%) |
| Hearing impairment | 28/93(30.1%) | 13/32(40.6%) | 41/125(32.8%) |
| Vision impairment | 26/93(28.0%) | 12/32(37.5%) | 38/125(30.4%) |
| Abnormal pigmentation | 29/93(31.2%) | 14/32(43.8%) | 43/125(34.4%) |
| Irritability | 74/93(79.6%)E | 16/32(50%)F | 90/125(72%) |
| Feeding difficulties | 36/93(38.7%) | 16/32(50%) | 52/125(41.6%) |
| Gastrostomy feeding tube | 27/93(29.0%)G | 3/32(9.4%)H | 30/125(24%) |
| Facial dysmorphic features | 0/93(0%)I | 7/32(21.9%)J | 7/125(5.6%) |
| Scoliosis | 14/93(15.1%) | 5/32(15.6%) | 19/125(15.2%) |
| Abnormal electroencephalographic | 43/93(46.2%) | 9/32(28.1%) | 52/125(41.6%) |
A versus B: P = p = 0.000 (Pearson’s Chi-squared test); C versus D: P = 0.016 (Yates’ continuity correction of the Chi-squared test); E versus F: P = 0.001 (Pearson’s Chi-squared test); GvsH: P = 0.025 (Pearson’s Chi-squared test); I versus J: P = 0.000 (Yates’ continuity correction of the Chi-squared test)