Table 1.
Clinical and Imaging Findings in Individuals with Mutations in DDX3X
| Non-PMG Individuals | PMG Individuals | Combined Total | |
|---|---|---|---|
| Neurologic | |||
| ID/DD | 95/95 (100%) | 11/11 (100%) | 106/106 (100%) |
| Nonverbal (in individuals above 5 years old) | 32/68 (47%) | 6/7 (86%) | 38/75 (51%) |
| Seizures | 15/83 (18%) | 2/10 (20%) | 17/93 (18%) |
| Microcephaly (≤3rd percentile) | 27/80 (34%) | 7/10 (70%) | 34/90 (38%) |
| Hypotonia | 52/82 (63%) | 2/11 (18%) | 54/93 (58%) |
| Hypertonia/Spasticity | 3/82 (4%) | 2/11 (18%) | 5/93 (5%) |
| Mixed Hypo and Hypertonia | 24/82 (29%) | 7/11 (64%) | 31/93 (33%) |
| Ophthalmologic | |||
| Coloboma | 2/82 (2%) | 2/10 (20%) | 4/92 (4%) |
| Strabismus | 22/82 (27%) | 3/10 (30%) | 25/92 (27%) |
| Congenital Cardiac Defects | 8/80 (10%) | 5/10 (50%) | 13/90 (14%) |
| Other Abnormalities | |||
| Precocious Puberty | 9/84 (11%) | 2/10 (20%) | 11/94 (12%) |
| Scoliosis | 12/84 (14%) | 3/10 (30%) | 15/94 (16%) |
| Non-PMG Individuals | PMG-spectrum Individuals | Combined Total | |
| Corpus Callosum Type | |||
| Complete ACC | 0/78 (0%) | 1/11 (9%) | 1/89 (1%) |
| Partial ACC | 1/78 (1%) | 3/11 (27%) | 4/89 (4%) |
| Diffusely thin | 13/78 (17%) | 1/11 (9%) | 14/89 (16%) |
| Thin posteriorly | 47/78 (60%) | 6/11 (55%) | 53/89 (60%) |
| Thick | 5/78 (7%) | 0/11 (0%) | 5/89 (6%) |
| Normal | 12/78 (15%) | 0/11 (0%) | 12/89 (13%) |
| Ventricles | |||
| Enlarged | 17/78 (22%) | 4/11 (36%) | 18/89 (24%) |
| Key-hole shaped temporal horns | 29/78 (37%) | 3/11 (27%) | 32/89 (36%) |
| Colpocephaly | 1/78 (1%) | 2/11 (18%) | 3/89 (3%) |
| Other | |||
| Small anterior commissure | 5/78 (6%) | 0/11 (0%) | 5/89 (6%) |
| Small pons | 6/78 (8%) | 5/11 (45%) | 11/89 (12%) |
| Small inferior vermis | 4/78 (5%) | 2/11 (18%) | 6/89 (7%) |
| Decreased white matter volume, (cortical) | 36/78 (46%) | 8/11 (72%) | 44/89 (49%) |
*
Bolded percentages indicate a p-value<0.05 and significant difference between a clinical feature found in Non-PMG and PMG individuals with the DDX3X mutation. Note: one patient had a low quality MRI scan and it could not be determined whether PMG was present or absent with the current data; therefore 106/107 patients are represented in the clinical data table.
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The total numbers for each category may vary, reflecting the range of data available for each participant.