Table 3. Phenotypic comparison of patients carrying a variant in CHD7 leading to a premature stop in CHD7.
| Feature | Our collected cohort (n=23)a | Cohort of Bergman et al12 (n=315)b |
|---|---|---|
| Coloboma | 16/23 (69.6%) | 199/229c (86.9%) |
| Heart defect | 22/23 (95.7%) | 212/257 (82.5%) |
| Choanal atresia | 16/19d (84.2%) | 110/182 (60.4%) |
| Cleft lip and/or palate | No isolated cleft lip | 80/144 (55,6%) |
| External ear anomaly | 20/20 (100%) | 217/221 (98.2%) |
| Semicircular canal anomaly | 14/14 (100%) | 121/121 (100%) |
| Cranial nerve dysfunction | 5/5 (100%) | 119/131 (90.8%) |
| Tracheoesophageal anomaly | 8/16 (50.0%) | 43/128 (33.6%) |
The patients come from our collected cohort and the cohort of Bergman et al.12
a
23 truncating mutations: 2 deletions, 8 frameshift mutations, 13 nonsense mutations.
b
315 truncating mutations: 5 deletions, 139 frameshift mutations; 171 nonsense mutations.
c
Owing to lacking clinical data, the number of patients is lower than the total number of patients.
d
Cleft palate is included in choanal atresia as these anomalies rarely occur together.