Table 2.
Most common clinical features of the previously reported patients of COG6 gene defect compared to the present patient
| Characteristic | Previously reported cases | Present case | All cases |
|---|---|---|---|
| Numbera | 16 | 1 | 17 |
| Gender | 8 M, 8 F | F | 8 M, 9 F |
| Country | 8 (Saudi Arabia), 4 (Turkey), 4 (Morocco), 1 (Bulgaria) | Saudi Arabia | 53% from Saudi Arabia |
| Consanguinity | 11 | Yes | 71% |
| Clinical features | |||
| Global developmental disability | 17 | Yes | 100% |
| Dysmorphic featuresb | 14 | Yes | 88% |
| Progressive microcephaly | 14 | Yes | 88% |
| Failure to thrive | 12 | Yes | 71% |
| Hypohydrosis | 9 | Yes | 59% |
| Hypotonia | 9 | Yes | 59% |
| Hepatosplenomegaly | 7 | Yes (only splenomegaly) | 47% |
| Death | 6 | No | 35% |
| Radiological findings (10/17) | |||
| Thin corpus callosum | 3 | Yes | 40% |
| Brain atrophy | 3 | Yes | 40% |
| Laboratory findings | |||
| Type 2 TIF pattern | 15 | Yes | 94% (15/17, 1 patient not assessed and 1 normal) |
| Increased liver transaminase levels | 9 | Yes | 59% |
| Pancytopenia | 5 | Yes | 35% |
| Decreased coagulation factors | 4 | Yes | 30% |
M male, F female, IUGR intrauterine growth retardation, TIF transferrin isoelectric focusing
a11 patients (4 males, 3 females, and 4 of unreported gender) reported by Shaheen et al. (2013) were excluded because of incomplete clinical profiles. The authors reported that all presented with similar clinical features to the index case
bBroad palpebral fissures, retrognathia, wide mouth with thin lips, prominent nose, slight epicanthus, short neck, asymmetric thorax, and post-axial polydactyly, anal anteposition